ABCB7 est un gène codé par le symbole ABCB7. D'autres noms incluent: ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein; ABC7. ABCB7 a une masse de 82.64kDa, une longueur d'acide aminé de 752, et est impliqué dans Anemia, sideroblastic, spinocerebellar ataxia.
Nous proposons 6 des anticorps contre ABCB7, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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 have been observed for this gene.
Implication dans la maladie
Anemia, sideroblastic, spinocerebellar ataxia: An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.
Similitudes de séquence
Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
Localisation cellulaire
Mitochondrion inner membrane.
