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- Table of Contents
Facts about ATP-binding cassette sub-family B member 7, mitochondrial.
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Human | |
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Gene Name: | ABCB7 |
Uniprot: | O75027 |
Entrez: | 22 |
Belongs to: |
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ABC transporter superfamily |
ABC transporter 7 protein; ABC7ATP-binding cassette sub-family B member 7, mitochondrial; ASATATP-binding cassette 7; Atm1p; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; EC 3.6.3; EC 3.6.3.42; EST140535
Mass (kDA):
82.641 kDA
Human | |
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Location: | Xq13.3 |
Sequence: | X; NC_000023.11 (75051048..75156283, complement) |
Mitochondrion inner membrane; Multi-pass membrane protein.
PMID: 9621516 by Shimada Y., et al. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.
PMID: 10196363 by Allikmets R., et al. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).