Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Serumalbumin

Serumalbumin ist das häufigste Protein im Blutplasma. Es ist für die AUfrechterhaltung des onkotischen Druckes und für verschiedene Transportaufgaben zuständig. Mutationen in diesem Gen sind für die autosomal rezessive Analbuminämie und die dysalbuminämische Hyperthyroxinämie verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kongenitale Analbuminämie
ALB

Referenzen:

1.

Dugaiczyk A et al. (1982) Nucleotide sequence and the encoded amino acids of human serum albumin mRNA.

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2.

Minchiotti L et al. (1995) A genetic variant of albumin (albumin Asola; Tyr140-->Cys) with no free -SH group but with an additional disulfide bridge.

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3.

Abdo Y et al. (1981) Proalbumin Lille, a new variant of human serum albumin.

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4.

Vaysse J et al. (1981) Trisalbuminemia.

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5.

Swain BK et al. (1980) Bisalbuminaemia: report from Calcutta.

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6.

Kaur H et al. (1982) Alloalbuminemia in North India.

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7.

Kao FT et al. (1982) Assignment of the structural gene coding for albumin to human chromosome 4.

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8.

Franklin SG et al. (1980) Albumin Naskapi variant in North American Indians and Eti Turks.

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9.

Kurnit DM et al. (1982) Confirmation of the mapping assignment of human serum albumin to chromosome 4 using a cloned human albumin gene.

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10.

Silverberg JD et al. (1982) Familial hyperthyroxinemia due to abnormal thyroid hormone binding.

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11.

Murray JC et al. (1984) Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus.

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12.

Hawkins JW et al. () The human serum albumin gene: structure of a unique locus.

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13.

Galliano M et al. (1993) Protein and DNA sequence analysis of a 'private' genetic variant: albumin Ortonovo (Glu-505-->Lys).

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14.

Harper ME et al. (1983) Linkage of the evolutionarily-related serum albumin and alpha-fetoprotein genes within q11-22 of human chromosome 4.

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15.

None (1981) Original domain for the serum albumin family arose from repeated sequences.

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16.

Prager EM et al. (1980) Mammoth albumin.

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17.

Urano Y et al. (1984) Tandem arrangement of the albumin and alpha-fetoprotein genes in the human genome.

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18.

Weitkamp LR et al. (1967) An electrophoretic comparison of serum albumin variants from nineteen unrelated families.

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19.

Melartin L et al. (1967) Albumin Mexico, a new variant of serum albumin.

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20.

None (1966) Genetic diversity in serum albumin.

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21.

Weitkamp LR et al. (1966) Genetic linkage between structural loci for albumin and group specific component (Gc).

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22.

Laurell CB et al. (1966) A new type of inherited serum albumin anomaly.

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23.

Melartin L et al. (1966) Albumin Naskapi: a new variant of serum albumin.

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24.

Weitkamp LR et al. (1969) An electrophoretic comparison of human serum albumin variants: eight distinguishable types.

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25.

FRASER GR et al. (1959) A new genetically determined plasma-protein in man.

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26.

Caridi G et al. (2019) A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.

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27.

Wandzioch E et al. (2009) Dynamic signaling network for the specification of embryonic pancreas and liver progenitors.

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28.

Minchiotti L et al. (2008) Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.

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29.

Masaki T et al. (2006) All-trans retinoic acid down-regulates human albumin gene expression through the induction of C/EBPbeta-LIP.

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30.

Franklin SG et al. (1980) Localization of the amino acid substitution site in a new variant of human serum albumin, albumin Mexico-2.

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31.

SARCIONE EJ et al. (1962) Studies in bisalbuminemia: binding properties of the two albumins.

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32.

EFREMOV G et al. (1964) SERUM ALBUMIN: POLYMORPHISM IN MAN.

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33.

TARNOKY AL et al. (1964) A NEW TYPE OF BISALBUMINAEMIA.

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34.

None (1960) On the presence of two albumins in certain normal human sera and its genetic determination.

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35.

None (1960) Bisalbuminaemia with curious acrocyanotic skin changes. (Two cases).

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36.

EARLE DP et al. (1959) Observations on double albumin: a genetically transmitted serum protein anomaly.

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37.

Arends T et al. (1969) Albumin Warao: new type of human alloalbuminemia.

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38.

Petitpas I et al. (2003) Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

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39.

Campagnoli M et al. (2002) A novel splicing mutation causes an undescribed type of analbuminemia.

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40.

Pohlenz J et al. (2001) Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.

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41.

Sunthornthepvarakul T et al. (1998) Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.

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42.

Wada N et al. (1997) A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.

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43.

Minchiotti L et al. (1993) The structural characterization and bilirubin-binding properties of albumin Herborn, a [Lys240-->Glu] albumin mutant.

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44.

Brennan SO et al. (1993) Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177.

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45.

Watkins S et al. (1994) A nucleotide insertion and frameshift cause analbuminemia in an Italian family.

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46.

Petersen CE et al. (1994) A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.

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47.

Sunthornthepvarakul T et al. (1994) An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.

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48.

Madison J et al. (1994) Genetic variants of human serum albumin in Italy: point mutants and a carboxyl-terminal variant.

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49.

Galliano M et al. (1990) Mutations in genetic variants of human serum albumin found in Italy.

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50.

Minchiotti L et al. (1989) The molecular defect in a COOH-terminal-modified and shortened mutant of human serum albumin.

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51.

Arai K et al. (1989) Identical structural changes in inherited albumin variants from different populations.

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52.

Huss K et al. (1988) The same substitution, glutamic acid----lysine at position 501, occurs in three alloalbumins of Asiatic origin: albumins Vancouver, Birmingham, and Adana.

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53.

Galliano M et al. (1988) The amino acid substitution in albumin Roma: 321 Glu----Lys.

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54.

Galliano M et al. (1989) A new proalbumin variant: albumin Jaffna (-1 Arg----Leu).

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55.

Arai K et al. (1989) Point substitutions in Japanese alloalbumins.

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56.

Arai K et al. (1989) Amino acid substitutions in albumin variants found in Brazil.

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57.

Minghetti PP et al. (1985) The rate of molecular evolution of alpha-fetoprotein approaches that of pseudogenes.

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58.

Rochu D et al. (1986) New method for identifying genetic variants of human proalbumin.

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59.

Arai K et al. (1990) Point substitutions in albumin genetic variants from Asia.

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60.

Brennan SO et al. (1990) Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene.

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61.

Minghetti PP et al. (1986) Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4.

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62.

Brennan SO et al. (1990) Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site.

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63.

Madison J et al. (1991) Genetic variants of serum albumin in Americans and Japanese.

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64.

Peach RJ et al. (1991) Structural characterization of a glycoprotein variant of human serum albumin: albumin Casebrook (494 Asp----Asn).

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65.

Sakamoto Y et al. (1991) Purification and structural study of two albumin variants in an Irish population.

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66.

Carlson J et al. (1992) Alloalbuminemia in Sweden: structural study and phenotypic distribution of nine albumin variants.

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67.

Peach RJ et al. (1992) Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.

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68.

Minchiotti L et al. (1992) Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions.

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69.

Boman H et al. (1976) Analbuminemia in an American Indian girl.

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70.

Brennan SO et al. (1978) A circulating variant of human proalbumin.

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71.

Schell LM et al. (1978) Distribution of albumin variants Naskapi amd Mexico among Aleuts, Frobisher Bay Eskimos, and Micmac, Naskapi, Mohawk, Omaha, and Apache Indians.

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72.

Vanzetti G et al. (1979) A homozygote for a serum albumin variant of the fast type.

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73.

Kaarsalo E et al. (1967) Autosomal linkage between the albumin and Gc loci in humans.

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74.

Blumberg BS et al. (1968) Alloalbuminemia. Albumin Naskapi in Indians of the Ungava.

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75.

Arvan DA et al. (1968) Transient "bisalmuminemia" induced by drugs.

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76.

Weitkamp LR et al. (1968) An unusual human serum albumin variant: further data on genetic linkage between loci for human serum albumin and group-specific component (Ge).

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77.

Weitkamp LR et al. (1968) Albumin Máku: a new variant of human serum albumin.

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78.

Weitkamp LR et al. (1970) Additional data and summary for albumin-Ge linkage in man.

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79.

Kueppers F et al. (1969) Albumin Santa Ana: a new inherited variant.

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80.

Jamieson GA et al. (1969) Studies on a genetically determined albumin dimer.

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81.

Lau TJ et al. (1972) Albumin cartago: a "new" slow-moving alloalbumin.

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82.

Weitkamp LR et al. (1973) Human serum albumin: twenty-three genetic variants and their population distribution.

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83.

None (1972) Generation time and albumin evolution.

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84.

Weitkamp LR et al. (1972) Phenotype frequencies for four serum proteins in Afghanistan: two "new" albumin variants.

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85.

Sargent TD et al. (1979) The rat serum albumin gene: analysis of cloned sequences.

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86.

None (1985) The molecular abnormality of albumin Parklands: 365 Asp----His.

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87.

Brennan SO et al. (1987) Albumin Canterbury (313 Lys----Asn). A point mutation in the second domain of serum albumin.

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88.

Pinkert CA et al. (1987) An albumin enhancer located 10 kb upstream functions along with its promoter to direct efficient, liver-specific expression in transgenic mice.

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89.

Fine JM et al. (1987) Human albumin genetic variants: an attempt at a classification of European allotypes.

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90.

Takahashi N et al. (1987) Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations.

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91.

Takahashi N et al. (1987) Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin.

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92.

Takahashi N et al. (1987) Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning.

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93.

Ruffner DE et al. (1988) Splicing mutation in human hereditary analbuminemia.

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94.

Huss K et al. (1988) Albumin Cooperstown: a serum albumin variant with the same (313 Lys----Asn) mutation found in albumins in Italy and New Zealand.

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95.

Galliano M et al. (1986) Structural characterization of a chain termination mutant of human serum albumin.

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Update: 14. August 2020
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