ABCB6 Antibody – Mouse Monoclonal

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

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

Chromosomal Location of Human Ortholog: 2q36

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

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

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

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