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 mental retardation. [provided by RefSeq, Aug 2013]

From UniProt:

May be involved in vesicular trafficking. Plays a role in synapse formation. 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.

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 155,258,234 to 155,264,589 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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