Family

ATP-binding cassette subfamily A member 12 (IPR030371)

Short name: ABCA12

Family relationships

Description

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].

GO terms

Biological Process

GO:0006869 lipid transport

Molecular Function

GO:0005215 transporter activity

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER