Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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.

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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3.

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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4.

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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5.

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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6.

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

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7.

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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8.

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

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9.

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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10.

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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11.

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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12.

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

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13.

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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14.

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

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