功能： disease: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.,function:Involved in late endocytic transport. Contributes to the maturation of phagosomes (acidification).,sequence caution:Wrong choice of frame.,similarity:Belongs to the small GTPase superfamily. Rab family.,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subunit:Interacts with RILP.,tissue specificity:Widely expressed; high expression found in skeletal muscle.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasmic vesicle, phagosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Late endosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Melanosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasmic vesicle, autophagosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Lipid droplet . Endosome membrane ; Peripheral membrane protein . Cytoplasmic vesicle . Mitochondrion membrane ; Peripheral membrane protein . Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). Found in the ruffled border (a late endosomal-like compartment in the plasma membrane) of bone-resorbing osteoclasts. Recruited to phagosomes containing S.aureus or Mycobacterium (PubMed:21255211). Lipid droplet localization is increased upon ADRB2 stimulation (By similarity). Recruited to damaged mitochondria during mitophagy in a RIMOC1-dependent manner (PubMed:34432599). .
组织表达： Widely expressed; high expression found in skeletal muscle.
功能： disease: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.,function:Involved in late endocytic transport. Contributes to the maturation of phagosomes (acidification).,sequence caution:Wrong choice of frame.,similarity:Belongs to the small GTPase superfamily. Rab family.,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subunit:Interacts with RILP.,tissue specificity:Widely expressed; high expression found in skeletal muscle.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasmic vesicle, phagosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Late endosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Melanosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasmic vesicle, autophagosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Lipid droplet . Endosome membrane ; Peripheral membrane protein . Cytoplasmic vesicle . Mitochondrion membrane ; Peripheral membrane protein . Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). Found in the ruffled border (a late endosomal-like compartment in the plasma membrane) of bone-resorbing osteoclasts. Recruited to phagosomes containing S.aureus or Mycobacterium (PubMed:21255211). Lipid droplet localization is increased upon ADRB2 stimulation (By similarity). Recruited to damaged mitochondria during mitophagy in a RIMOC1-dependent manner (PubMed:34432599). .
组织表达： Widely expressed; high expression found in skeletal muscle.
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