RAS癌基因相关蛋白RAB7重组兔单抗

RAB7A

Ras-related protein Rab-7a

Interacts with RILP. Interacts with PSMA7. Interacts with RNF115. Interacts with FYCO1

Late endosome. Lysosome. Cytoplasmic vesicle, phagosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Widely expressed; high expression found in skeletal muscle.

Defects in RAB7A are the cause of Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]; 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.

Belongs to the small GTPase superfamily. Rab family.

Involved in late endocytic transport. Contributes to the maturation of phagosomes (acidification).