Gene: RAB23

Alternate names for this Gene: HSPC137

Gene Summary: This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.1-p11.2

Description of this Gene: RAB23, member RAS oncogene family

Type of Gene: protein-coding

rs121908171 in RAB23 gene and Acrocephalopolysyndactyly type 2 PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 17503333 2007 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

PMID 24458945 2014 Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

rs765443042 in RAB23 gene and CARPENTER SYNDROME 1 PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 23599695 2013 A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

rs16888392 in RAB23 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs121908171 in RAB23 gene and Multiple congenital anomalies PMID 25168863 2014 Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

PMID 3322002 1987 Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

PMID 20358613 2010 RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 3993675 1985 Carpenter syndrome: natural history and clinical spectrum.

PMID 15129947 2004 The carpenter syndrome phenotype.