RAB23 wt Allele

Preferred Label : RAB23 wt Allele;

NCIt synonyms : HSPC137; RAB23, Member RAS Oncogene Family wt Allele;

NCIt definition : Human RAB23 wild-type allele is located in the vicinity of 6p11 and is approximately 33 kb in length. This allele, which encodes ras-related protein Rab-23, plays a role in both intracellular signaling and intracellular membrane trafficking. Mutations in this gene are associated with Carpenter syndrome.;

NCIt note : Ensembl has this gene at 6p11.2 and HGNC has it at 6p12.1.; Alternative splicing produces two transcript variants that encode the same protein. (RefSeq);

GenBank Accession Number : NM_183227;

Details

Origin ID

C106458;

UMLS CUI

C3828421;

OMIM relation
- Ras-associated protein rab23 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Hedgehog Signaling Events Mediated by Gli Family Proteins [NCIt concept]
gene_plays_role_in_process
- Antimicrobial Effect [NCIt concept]
- Autophagy [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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