Description
Product Characteristics: FUNCTION: Involved in late endocytic transport. Contributes to the maturation of phagosomes (acidification). SUBCELLULAR LOCATION: Late endosome. Lysosome. Cytoplasmic vesicle, phagosome. Melanosome. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. TISSUE SPECIFICITY: Widely expressed, high expression found in skeletal muscle. DISEASE: Defects in RAB7A are the cause of Charcot-Marie-Tooth disease type 2B (CMT2B) also known as hereditary motor and sensory neuropathy II (HMSN2). CMT2B is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2B is clinically characterized by marked distal muscle weakness and a high frequency of foot ulcers, infections and amputations of the toes. CMT2B inheritance is autosomal dominant.,Rab Family,RAB7A, RAB7
Target Information: 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]