ATP-binding cassette subfamily A member 12 (IPR030371)
Short name: ABCA12
Overlapping homologous superfamilies
- ABC transporter A (IPR026082)
- ATP-binding cassette subfamily A member 12 (IPR030371)
Members of ABC (ATP-binding cassette) transporter subfamily A are full-length transporters [PMID: 23103747], which consist of a single long polypeptide chain organised into two tandemly arranged halves. Each half contains a membrane-spanning domain (MSD) followed by a cytoplasmic nucleotide binding domain (NBD) [PMID: 11320094].
ATP-binding cassette subfamily A member 12 (ABCA12) is linked to three related dyskeratinisation disorders: Harlequin ichthyosis (HI) [PMID: 16007253], lamellar ichthyosis type 2 [PMID: 12915478], and non-bullous congenital ichthyosiform erythroderma [PMID: 18284401]. It may play an important role in lipid transport from the Golgi apparatus to lamellar granule in human granular layer keratinocytes [PMID: 17927575].
- PTHR19229:SF29 (PTHR19229:SF29)