WASHC4 gene

WASH complex subunit 4

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

From NCBI Gene:

This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

From UniProt:

Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).

From NCBI Gene:

  • Mental retardation, autosomal recessive 43

From UniProt:

Mental retardation, autosomal recessive 43 (MRT43): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:615817]

Cytogenetic Location: 12q23.3, which is the long (q) arm of chromosome 12 at position 23.3

Molecular Location: base pairs 105,107,714 to 105,169,134 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q23.3, which is the long (q) arm of chromosome 12 at position 23.3
  • KIAA1033
  • MRT43
  • SWIP