RAB39B wt Allele

Preferred Label : RAB39B wt Allele;

NCIt synonyms : MRX72; WSN; WSMN; RAB39B, Member RAS Oncogene Family wt Allele; Mental Retardation, X-Linked 72 Gene; BGMR; XLID72; Waisman Syndrome Gene;

NCIt definition : Human RAB39B wild-type allele is located in the vicinity of Xq28 and is approximately 6 kb in length. This allele, which encodes Ras-related protein Rab-39B, plays a role in the localization of proteins involved in synaptic transmission and autophagy. Mutations in the gene are associated with Waisman syndrome and X-linked intellectual developmental disorder 72.;

NCI Metathesaurus CUI : CL1927378;

GenBank Accession Number : AY052478;

Details

Origin ID

C204926;

OMIM relation
- Rab39b, member ras oncogene family [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Autophagy Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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