Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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 Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kongenitale Analbuminämie
ALB

Referenzen:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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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23.

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

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24.

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

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25.

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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26.

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

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27.

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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28.

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

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29.

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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30.

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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31.

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

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32.

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

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33.

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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34.

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

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35.

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

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36.

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

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37.

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

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38.

None (1972) Generation time and albumin evolution.

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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

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44.

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

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45.

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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46.

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

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47.

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

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48.

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

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49.

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

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50.

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

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51.

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

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52.

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

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53.

None (1966) Genetic diversity in serum albumin.

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54.

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

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55.

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

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56.

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

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57.

Prager EM et al. (1980) Mammoth albumin.

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58.

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

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59.

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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60.

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

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61.

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

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62.

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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63.

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

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64.

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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65.

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

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66.

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

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67.

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

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68.

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

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69.

Vaysse J et al. (1981) Trisalbuminemia.

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70.

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

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71.

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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72.

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

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73.

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

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74.

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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75.

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

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76.

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

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77.

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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78.

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

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79.

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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80.

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

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81.

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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82.

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

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83.

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

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84.

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

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85.

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

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86.

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

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87.

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

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88.

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

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89.

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

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90.

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

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91.

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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92.

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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93.

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

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94.

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

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95.

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

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Update: 8. Juni 2020