RAB18 gene

RAB18, member RAS oncogene family

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

From NCBI Gene:

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

From UniProt:

Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.

From NCBI Gene:

  • Warburg micro syndrome 3

From UniProt:

Warburg micro syndrome 3 (WARBM3): 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:614222]

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1

Molecular Location: base pairs 27,504,174 to 27,542,237 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1
  • RAB18LI1
  • WARBM3