RAB7A, Member RAS Oncogene Family (RAB7A)

RAB7; Ras-related protein Rab-7a

SPN	N432
HGNC	9788
MGI	105068
PubMed	22072966
RGD	61908
UniProt	P51149
Wiki	RAB7A

Members of the RAB family of RAS-related GTP-binding proteins are important regulators of vesicular transport and are located in specific intracellular compartments. RAB7 has been localized to late endosomes and shown to be important in the late endocytic pathway. In addition, it has been shown to have a fundamental role in the cellular vacuolation induced by the cytotoxin VacA of Helicobacter pylori.

Various mutations of RAB7A are associated with Hereditary sensory neuropathy type 1C (HSN IC), also known as Charcot-Marie-Tooth syndrome type 2B (CMT2B).The RAB7 cDNA encodes a 207-amino acid protein whose sequence is 99% identical to those of mouse, rat, and dog Rab7 and 61% identical to that of yeast Rab7.

Reference

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"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
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"Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation."
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"Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy."
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"Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling."
PLoS ONE 5:E15351-E15351(2010) [PubMed] [Europe PMC] [Abstract]