ABCB6 Antibody – Rabbit Polyclonal

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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

ABCB6: Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. Defects in ABCB6 are the cause of microphthalmia, isolated, with coloboma, type 7 (MCOPCB7). A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Mitochondrial; Transporter, ABC family; Hydrolase; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 2q36

Cellular Component: ATP-binding cassette (ABC) transporter complex; endoplasmic reticulum; endoplasmic reticulum membrane; endosome; endosome membrane; Golgi apparatus; Golgi membrane; integral to mitochondrial outer membrane; mitochondrial envelope; mitochondrial inner membrane; mitochondrial outer membrane; mitochondrion; plasma membrane

Molecular Function: ATP binding; efflux transmembrane transporter activity; heme binding; heme transporter activity; heme-transporting ATPase activity

Biological Process: brain development; cellular iron ion homeostasis; heme transport; porphyrin biosynthetic process; skin development; transmembrane transport; transport

Disease: Blood Group, Langereis System; Dyschromatosis Universalis Hereditaria 3; Microphthalmia, Isolated, With Coloboma 7