RAB39B gene

RAB39B, member RAS oncogene family

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

From NCBI Gene:

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 cognitive disability. [provided by RefSeq, Aug 2013]

From UniProt:

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).

From NCBI Gene:

  • Early-onset parkinsonism-intellectual disability syndrome
  • Mental retardation, X-linked 72
  • Chromosome Xq28 duplication syndrome

From UniProt:

Mental retardation, X-linked 72 (MRX72): 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 mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. [MIM:300271]

Waisman syndrome (WSMN): A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. [MIM:311510]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 155,258,235 to 155,264,491 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • BGMR
  • MRX72
  • WSMN
  • WSN