产品名称
RAB7A Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/7879
Human Swissprot No.
P51149
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P51149/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/19349
Mouse Swissprot No.
P51150
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P51150
Rat Gene Link
https://www.uniprot.org/uniprot/29448
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P09527
免疫原
Synthesized peptide derived from human RAB7A AA range: 84-134
特异性
This antibody detects endogenous levels of RAB7A at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Widely expressed; high expression found in skeletal muscle.
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). .
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
