Gene: GDI1

Alternate names for this Gene: 1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4

Gene Summary: GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: GDP dissociation inhibitor 1

Type of Gene: protein-coding

Gene: ATP6AP1

Alternate names for this Gene: 16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3

Gene Summary: This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: ATPase H+ transporting accessory protein 1

Type of Gene: protein-coding