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ABCB6 cdna clone

Scan QR to view Datasheet Catalog #    MBS1269188 ABCB6 cdna clone
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

ABCB6, cDNA Clone

 Also Known As   

ABCB6 cDNA Clone

 Product Gene Name   

ABCB6 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    Please Inquire
 OMIM    111600
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 Vector    Please Inquire
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 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.
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NCBI/Uniprot data below describe general gene information for ABCB6. It may not necessarily be applicable to this product.
 NCBI GI #    33875571
 NCBI GeneID    10058
 NCBI Accession #    BC000559 [Other Products]
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 UniProt Secondary Accession #    O75542; Q49A66; Q59GQ5; Q6ZME6; Q96ME8; Q9HAQ6; Q9HAQ7 [Other Products]
 UniProt Related Accession #    Q9NP58 [Other Products]
 Molecular Weight    88,600 Da
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 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    ABC transporter B family
 UniProt Gene Name    ABCB6 [Similar Products]
 UniProt Synonym Gene Names    MTABC3; PRP; UMAT; Mt-ABC transporter 3 [Similar Products]
 UniProt Entry Name    ABCB6_HUMAN
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 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]
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 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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 Research Articles on ABCB6    1. genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with ABCB6 cdna cloneDiseases associated with ABCB6 cdna clone
 Products by Pathway  Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC-family Proteins Mediated Transport Pathway antibodies  ABC-family Proteins Mediated Transport Pathway Diagram
 Mitochondrial ABC Transporters Pathway antibodies  Mitochondrial ABC Transporters Pathway Diagram
 Transmembrane Transport Of Small Molecules Pathway antibodies  Transmembrane Transport Of Small Molecules Pathway Diagram
 Disease Name  Pubmed Publications
 Neoplasms Antibodies  >11 publications with ABCB6 and Neoplasms
 Carcinoma Antibodies  >5 publications with ABCB6 and Carcinoma
 Drug Toxicity Antibodies  >5 publications with ABCB6 and Drug Toxicity
 Carcinoma, Hepatocellular Antibodies  >4 publications with ABCB6 and Carcinoma, Hepatocellular
 Anemia Antibodies  >3 publications with ABCB6 and Anemia
 Liver Neoplasms Antibodies  >3 publications with ABCB6 and Liver Neoplasms
 Nervous System Diseases Antibodies  >3 publications with ABCB6 and Nervous System Diseases
 Liver Diseases Antibodies  >3 publications with ABCB6 and Liver Diseases
 Adenocarcinoma Antibodies  >3 publications with ABCB6 and Adenocarcinoma
 Breast Neoplasms Antibodies  >2 publications with ABCB6 and Breast Neoplasms
Organs/Tissues associated with ABCB6 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Liver Antibodies  >9 publications with ABCB6 and Liver
 Blood Antibodies  >8 publications with ABCB6 and Blood
 Brain Antibodies  >6 publications with ABCB6 and Brain
 Lung Antibodies  >4 publications with ABCB6 and Lung
 Skin Antibodies  >3 publications with ABCB6 and Skin
 Intestine Antibodies  >1 publications with ABCB6 and Intestine
 Bone Marrow Antibodies  >1 publications with ABCB6 and Bone Marrow
 Eye Antibodies  >1 publications with ABCB6 and Eye
 Testis Antibodies  >1 publications with ABCB6 and Testis
 Bone Antibodies  >1 publications with ABCB6 and Bone
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