Entity Details

Primary name RAB23
Entity type gene
Source Source Link

Details

PrimaryID51715
RefseqGeneNG_012170
SymbolRAB23
NameRAB23, member RAS oncogene family
Chromosome6
Location6p12.1-p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRAB23_HUMAN

GO terms

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GOName
GO:0000045 autophagosome assembly
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006886 intracellular protein transport
GO:0006968 cellular defense response
GO:0010008 endosome membrane
GO:0012505 endomembrane system
GO:0030054 cell junction
GO:0030670 phagocytic vesicle membrane
GO:0042308 negative regulation of protein import into nucleus
GO:0045335 phagocytic vesicle
GO:0046039 GTP metabolic process
GO:0060271 cilium assembly
GO:0097094 craniofacial suture morphogenesis

Diseases

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Disease IDSourceNameDescription
201000 OMIMCarpenter syndrome 1 (CRPT1)A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. The disease is caused by variants affecting the gene represented in this entry.