蛋白名称
ATP-binding cassette sub-family B member 7 mitochondrial
分子量（DA）
Human:83kD,Mouse/Rat 100kD
免疫原
The antiserum was produced against synthesized peptide derived from human ABCB7. AA range:691-740
特异性
ABCB7 Monoclonal Antibody detects endogenous levels of ABCB7 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
ABCB7; ABC7; ATP-binding cassette sub-family B member 7; mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein
背景
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms hav
功能
disease:Defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]. ASAT is a recessive disorder characterized by an infantile to early childhood onset of nonprogressive cerebellar ataxia and mild anemia with hypochromia and microcytosis.,function:Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.,similarity:Belongs to the ABC transporter family. Heavy Metal importer (TC 3.A.1.210) subfamily.,similarity:Contains 1 ABC transmembrane type-1 domain.,similarity:Contains 1 ABC transporter domain.,subunit:Homodimer or heterodimer .,
