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Plasmamembran-Calciumtransport-ATPase 2

Das ATP2B2-Gen kodiert eine Calcium-Transportprotein, welches für die intrazelluläre Calcium-Homöostase verantwortlich ist. Mutationen Modifizieren die autosomal rezessive Hörstörung vom Typ 12.

Gentests:

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

Verknüpfte Erkrankungen:

Autosomal rezessive Schwerhörigkeit 12
ATP2B2
CDH23

Referenzen:

1.

Brandt P et al. (1992) Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2.

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2.

Lek M et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.

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3.

Bortolozzi M et al. (2010) The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.

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4.

Schultz JM et al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

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5.

Reinhardt TA et al. (2004) Null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2 impairs calcium transport into milk.

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6.

Chicka MC et al. (2003) Alternative splicing of the first intracellular loop of plasma membrane Ca2+-ATPase isoform 2 alters its membrane targeting.

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7.

DeMarco SJ et al. (2002) Plasma membrane Ca2+ ATPase isoform 2b interacts preferentially with Na+/H+ exchanger regulatory factor 2 in apical plasma membranes.

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8.

Street VA et al. (1998) Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.

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9.

Kozel PJ et al. (1998) Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2.

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10.

Elwess NL et al. (1997) Plasma membrane Ca2+ pump isoforms 2a and 2b are unusually responsive to calmodulin and Ca2+.

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11.

Santiago-García J et al. (1996) Analysis of mRNA expression and cloning of a novel plasma membrane Ca(2+)-ATPase splice variant in human heart.

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12.

Wang MG et al. (1994) Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively.

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13.

Brandt P et al. (1992) Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels.

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14.

Richards FM et al. (1993) Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis.

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15.

Orphanet article

Orphanet ID 447183 external link
16.

NCBI article

NCBI 491 external link
17.

OMIM.ORG article

Omim 108733 external link
Update: 14. August 2020
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