TBC1D20 gene

TBC1 domain family member 20

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

From NCBI Gene:

This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

From UniProt:

GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

From NCBI Gene:

  • Warburg micro syndrome 4

From UniProt:

Warburg micro syndrome 4 (WARBM4): A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. [MIM:615663]

Cytogenetic Location: 20p13, which is the short (p) arm of chromosome 20 at position 13

Molecular Location: base pairs 435,477 to 462,553 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p13, which is the short (p) arm of chromosome 20 at position 13
  • C20orf140
  • WARBM4