rab7 proto-oncogene protein; Ras-related protein Rab-7a (RAB7A, RAB7, BRL-ras)
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Function
- role in late endocytic transport
- contributes to the maturation of phagosomes (acidification) interacts with RILP
Structure
belongs to the small GTPase superfamily, Rab family
Compartment
- late endosome. lysosome
- cytoplasmic vesicle, phagosome
- melanosome; stage I to stage IV
Expression
- widely expressed
- high expression found in skeletal muscle
Pathology
- defects in RAB7A are the cause of: Charcot-Marie-Tooth disease type-2B
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P51149.html
- ↑ Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTmutations/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7A
- ↑ Kahn RA, Der CJ, Bokoch GM. The ras superfamily of GTP-binding proteins: guidelines on nomenclature. FASEB J. 1992 May;6(8):2512-3. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1592203
- ↑ Seabra MC et al Rab GTPases, intracellular traffic and disease Trends in Molecular Medicine 8:23, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11796263
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7879