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Rabbit Anti-ATP6V0A2 antibody
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. SLVATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
Function:
Part of the proton channel of SLVATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.
Subcellular Location:
Cell membrane. Endosome membrane. In kidney proximal tubules, also detected in subapical vesicles.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A) [MIM:219200]. An autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.
Similarity:
Belongs to the SLVATPase 116 kDa subunit family.
SWISS:
Q9Y487
Gene ID:
23545
Database links:
Entrez Gene: 338038 Cow
Entrez Gene: 23545 Human
Entrez Gene: 21871 Mouse
Entrez Gene: 116455 Rat
Omim: 611716 Human
SwissProt: O97681 Cow
SwissProt: Q9Y487 Human
SwissProt: P15920 Mouse
Unigene: 25786 Human
Unigene: 1158 Mouse
Unigene: 392098 Mouse
Unigene: 204067 Rat
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