ATP6AP2 gene

ATPase H+ transporting accessory protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS).

From NCBI Gene:

  • Mental retardation, X-linked, syndromic, Hedera type
  • Parkinsonism with spasticity, X-linked

From UniProt:

Parkinsonism with spasticity, X-linked (XPDS): A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. [MIM:300911]

Mental retardation, X-linked, with epilepsy (MRXE): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. [MIM:300423]

Cytogenetic Location: Xp11.4, which is the short (p) arm of the X chromosome at position 11.4

Molecular Location: base pairs 40,580,964 to 40,606,637 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.4, which is the short (p) arm of the X chromosome at position 11.4
  • APT6M8-9
  • ATP6IP2
  • ATP6M8-9
  • ELDF10
  • HT028
  • M8-9
  • MRXE
  • MRXSH
  • MSTP009
  • PRR
  • RENR
  • XMRE
  • XPDS