This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked mental retardation. [provided by RefSeq, Aug 2013]
Function:
May be involved in vesicular trafficking. Plays a role in synapse formation.
Subunit:
Interacts (in GTP-bound form) with PICK1 (via PDZ domain); a PICK1 homodimer may allow simultaneous association of RAB39B and GRIA2 to PICK1 which is involved in GRIA2 trafficking.
Subcellular Location:
Cell membrane; Lipid-anchor; Cytoplasmic side
Tissue Specificity:
Highly expressed in the brain.
DISEASE:
Mental retardation, X-linked 72 (MRX72)
SWISS:
Q96DA2
Gene ID:
116442
Database links:
Entrez Gene: 537560 Cow
Entrez Gene: 116442 Human
Entrez Gene: 67790 Mouse
Entrez Gene: 100328771 Rabbit
Omim: 300774 Human
SwissProt: Q17QU4 Cow
SwissProt: Q96DA2 Human
SwissProt: Q8SHC1 Mouse
Unigene: 55967 Cow
Unigene: 632832 Human
Unigene: 45148 Mouse
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