ABCB6

GENE INFORMATION

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Gene name

ABCB6 (HGNC Symbol)

Synonyms

EST45597, MTABC3, umat

Description

ATP-binding cassette, sub-family B (MDR/TAP), member 6 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2 (Chromosome progress)

Cytoband

q35

Chromosome location (bp)

220074490 - 220083712

Ensembl

ENSG00000115657 (version 73.37)

Entrez gene

10058

UniProt

Q9NP58 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NP58

Antibodypedia

ABCB6 antibodies
 

PROTEIN VIEW

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ABCB6-001
 
ABCB6-003
 
ABCB6-005
 
ABCB6-007
 
ABCB6-012
 
ABCB6-015
 
ABCB6-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCB6-001 ENSP00000265316
ENST00000265316
Q9NP58
Show all »
Show » Show » 842 93.9 No >9
ABCB6-003 ENSP00000392988
ENST00000417678
H7C1R6
Show all »
Show » Show » 147 16.1 No 3
ABCB6-005 ENSP00000295750
ENST00000295750
Show » Show » 690 77.4 No 9
ABCB6-007 ENSP00000401811
ENST00000452545
H7C1R6
Show all »
Show » Show » 68 7.9 No 1
ABCB6-012 ENSP00000414646
ENST00000443805
40 4 No 0
ABCB6-015 ENSP00000404006
ENST00000448398
Show » 119 12.8 Yes 2
ABCB6-201 ENSP00000394333
ENST00000439002
Q9NP58
Show all »
Show » Show » 796 88.6 No >9