GDI1

Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.

Intellectual developmental disorder, X-linked 41

XLID41

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the Rab GDI family.

Brain; predominant in neural and sensory tissues.

• Cytoplasm
• Golgi apparatus
• trans-Golgi network

GDIL, OPHN2, RABGDIA, XAP4, GDI1, Rab GDP dissociation inhibitor alpha, Rab GDI alpha, Guanosine diphosphate dissociation inhibitor 1, Oligophrenin-2, Protein XAP-4, GDI-1

• entrezGene:2664
• omim:300104
• swissprot:P31150

Proteins

Neuroscience

50583Da