ABCB7 è un gene codificato dal simbolo ABCB7. Altri nomi includono: ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ABC transporter 7 protein; ABC7. ABCB7 ha una massa di 82.64kDa, una lunghezza di amminoacidi di 752, ed è implicato in Anemia, sideroblastic, spinocerebellar ataxia.
Offriamo 6 anticorpi contro ABCB7, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
Posizione cellulare
Mitochondrion inner membrane.
