Introduction of ABCB6
ABCB6 encoded by ABCB6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters which transport various molecules across extra- and intracellular membranes. There are seven subfamilies in ABC superfamily named as ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White, respectively. ABCB6 protein belongs to MDR/TAP subfamily. It is a “half transporter” that functions as a homodimer. The structure of ABCB6 is predicted to contain 11 membrane-spanning helices and a conserved cytosolic nucleotide binding domain.
|Basic Information of ABCB6|
|Protein Name||ATP-binding cassette sub-family B member 6|
|Aliases||UMAT, PRP, MTABC3|
|Organism||Homo sapiens (Human)|
Function of ABCB6 Membrane Protein
ABCB6 is a mitochondrial ABC transporter protein that exerts an important role in mitochondrial functions through regulating heme synthesis. It has been shown that ABCB6 functions as a broad-spectrum and ATP-dependent porphyrin transporter that can transport porphyrin into mitochondria. Porphyrin is an important component of heme that plays an important role in multiple biological processes including oxygen transport, circadian rhythm, detoxification mediated by cytochrome P450, the regulation of transcription and translation, as well as cell apoptosis. ABCB6 deficiency leads to porphyria and defects in heme synthesis, resulting in dysfunctions of mitochondria. ABCB6 has been revealed a role in the antioxidant system, resistance to toxic metals, and promoting tumor growth as well as proliferation. Moreover, ABCB6 has been revealed to be the molecular basis of the Langereis (Lan) blood group antigen. These findings suggest ABCB6 is involved in the progression of various diseases such as familial pseudohyperkalemia, ocular coloboma, dyschromatosis universalis hereditaria, and cancer. Hence ABCB6 may be a promising therapeutic target.
Fig.1 Structure of protein ABCB6.
Application of ABCB6 Membrane Protein in Literature
The study indicates the localization of ABCB6 to melanosomes and suggests a potential association of ABCB6 with the etiology of dyschromatosis universalis hereditaria (DUH) to amyloid formation in pigment cells.
The study defined both novel blood group alleles (ABCB6:c.1118_1124delCGGATCG, ABCB6:c.1656-1G>A, RHD:c.452G>A, and CD55:c.203G>A,) and rare variants on blood group alleles associated with altered phenotypes using exome sequencing.
The review summarizes the recent findings of ABCB6 structure, mechanism, transport, contributions to cellular stress, and current clinical implications.
The study shows that ATP-binding casette transporter: ABCC1, ABCC3, ABCB6 and ABCA5 may be the potential targets for improving chemotherapeutic responses in acute myeloid leukemia.
The review briefly summarizes the role of ABC transport proteins in the pathological process of atherosclerosis and the role in the pharmacokinetics of therapeutic drugs for cardiovascular diseases.
ABCB6 Preparation Options
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