Gene Symbol | ATP6AP2 |
Entrez Gene ID | 10159 |
Full Name | ATPase H+ transporting accessory protein 2 |
Synonyms | APT6M8-9,ATP6IP2,ATP6M8-9,ELDF10,HT028,M8-9,MRXE,MRXSH,MSTP009,PRR,RENR,XMRE,XPDS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked, syndromic, Hedera type, 300423 (3); ?Parkinsonism with spasticity, X-linked, 300911 (3) |