RAB7, Member RAS Oncogene Family (RAB7) (aa 160-205)
Clone
polyclonal
Host Species
Rabbit
Reactive Species
human, mouse
Isotype
n/a
Format
serum
Size
100 μL
Concentration
n/a
Applications
Immunohistochemistry (IHC),Western Blotting (WB)
Reviews / Ratings
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Description
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. Also known as: RAB7A, RAB7.
Immunogen
A synthetic peptide from aa region 160-205 of human RAB7 conjugated to blue carrier protein has been used as the antigen. The peptide is homologous in mouse and xenopus.