RAB7A Antibody – Rabbit Monoclonal

RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]

Rab7: a member of the RAB family of RAS-related GTP-binding proteins, 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. Mutations in this protein cause Charcot-Marie-Tooth type 2B neuropathy.

Protein type: G protein, monomeric; G protein, monomeric, Rab; G protein

Chromosomal Location of Human Ortholog: 3q21.3

Cellular Component: Golgi apparatus; phagocytic vesicle membrane; intracellular membrane-bound organelle; lysosome; retromer complex; lysosomal membrane; late endosome; vacuolar membrane; pre-autophagosomal structure membrane; melanosome; phagocytic vesicle

Molecular Function: GTPase activity; protein binding; GDP binding; GTP binding; Rac GTPase binding

Biological Process: protein transport; protein targeting to lysosome; early endosome to late endosome transport; antigen processing and presentation of exogenous peptide antigen via MHC class II; endosome to lysosome transport; endocytosis; protein to membrane docking; Rab protein signal transduction; retrograde transport, endosome to Golgi; epidermal growth factor ligand processing; bone resorption

Disease: Charcot-marie-tooth Disease, Axonal, Type 2b