RAB7A wt Allele

Preferred Label : RAB7A wt Allele;

NCIt synonyms : RAB7A, Member RAS Oncogene Family wt Allele; PRO2706; CMT2B; RAB7, Member RAS Oncogene Family Gene; RAB7;

NCIt definition : Human RAB7A wild-type allele is located in the vicinity of 3q21 and is approximately 89 kb in length. This allele, which encodes ras-related protein Rab-7a, plays a role in the localization and function of both endosomes and lysosomes. Mutation of the gene is associated with Charcot-Marie-Tooth disease 2B.;

GenBank Accession Number : X93499;

Details

Origin ID

C119632;

UMLS CUI

C3890376;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B [DO Concept]
- Charcot-Marie-Tooth disease, type 2B [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2b [OMIM Phenotype]
- RAB7A, member RAS oncogene family [ORDO Gene]
- Ras-associated protein rab7 [OMIM gene]
OMIM relation
- Ras-associated protein rab7 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q21 [NCIt concept]
gene_is_element_in_pathway
- Amoebiasis Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- IL12-Mediated Signaling Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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