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- Table of Contents
Facts about ATP-binding cassette sub-family A member 12.
Human | |
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Gene Name: | ABCA12 |
Uniprot: | Q86UK0 |
Entrez: | 26154 |
Belongs to: |
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ABC transporter superfamily |
ABC12; ATP-binding cassette 12; ATP-binding cassette transporter 12; ATP-binding cassette, sub-family A (ABC1), member 12; DKFZP434G232; EC 3.6.3; EC 3.6.3.25; FLJ41584; ichthyosis congenita II, lamellar ichthyosis B; ICR2B; LI2ATP-binding cassette sub-family A member 12
Mass (kDA):
293.237 kDA
Human | |
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Location: | 2q35 |
Sequence: | 2; NC_000002.12 (214931542..215138626, complement) |
Mainly expressed in the stomach, placenta, testis and fetal brain.
Membrane; Multi-pass membrane protein.
PMID: 12697999 by Annilo T., et al. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34.
PMID: 20672373 by Akiyama M.; ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.