RAB39B
Function
Small GTPases Rab involved in autophagy (PubMed:27103069). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:27103069). May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity).
Involvement in disease
Intellectual developmental disorder, X-linked 72
XLID72
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. XLID72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features.
None
The disease is caused by variants affecting the gene represented in this entry.
Waisman syndrome
WSMN
A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.
None
The disease is caused by variants affecting the gene represented in this entry. Its association with Parkinson disease is however unclear (PubMed:26739247, PubMed:27459931). According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that RAB39B does not play a major role in Parkinson disease etiology (PubMed:26739247, PubMed:27459931).
Sequence Similarities
Belongs to the small GTPase superfamily. Rab family.
Tissue Specificity
Highly expressed in the brain.
Cellular localization
- Cell membrane
- Lipid-anchor
- Cytoplasmic side
- Cytoplasmic vesicle membrane
- Lipid-anchor
- Cytoplasmic side
- Golgi apparatus
- Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network.
Alternative names
Ras-related protein Rab-39B, RAB39B