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ABCB6 cdna clone

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Catalog # MBS1269188
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ABCB6 cdna clone
Product Name

ABCB6, cDNA Clone

Also Known As

ABCB6 cDNA Clone

Product Gene Name
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Length
Please Inquire
Please Inquire
ISO Certification
Manufactured in an ISO 9001:2008 Certified Laboratory.
Other Notes
Small volumes of ABCB6 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for ABCB6. It may not necessarily be applicable to this product.
NCBI Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
88,600 Da
NCBI Official Full Name
Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6, mRNA
NCBI Official Synonym Full Names
ATP binding cassette subfamily B member 6 (Langereis blood group)
NCBI Official Symbol
ABCB6  [Similar Products]
NCBI Official Synonym Symbols
  [Similar Products]
NCBI Protein Information
ATP-binding cassette sub-family B member 6, mitochondrial
UniProt Protein Name
ATP-binding cassette sub-family B member 6, mitochondrial
UniProt Synonym Protein Names
Mitochondrial ABC transporter 3; Mt-ABC transporter 3; P-glycoprotein-related protein; Ubiquitously-expressed mammalian ABC half transporter
Protein Family
UniProt Gene Name
ABCB6  [Similar Products]
UniProt Synonym Gene Names
MTABC3; PRP; UMAT; Mt-ABC transporter 3  [Similar Products]
UniProt Entry Name
NCBI Summary for ABCB6
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]
UniProt Comments for ABCB6
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: Mitochondrial; Membrane protein, multi-pass; Membrane protein, integral; Transporter, ABC family; Transporter; Hydrolase

Chromosomal Location of Human Ortholog: 2q36

Cellular Component: endoplasmic reticulum; endosome; Golgi apparatus; 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; Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
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