3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0005215 | IPR030371 |
| GO:0006869 | IPR030371 |
| GO:0016021 | IPR030371 |
| Type: | Family | Name: | ATP-binding cassette subfamily A member 12 |
| Description: | Members of ABC (ATP-binding cassette) transporter subfamily A are full-length transporters [], 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) []. ATP-binding cassette subfamily A member 12 (ABCA12) is linked to three related dyskeratinisation disorders: Harlequin ichthyosis (HI) [], lamellar ichthyosis type 2 [], and non-bullous congenital ichthyosiform erythroderma []. It may play an important role in lipid transport from the Golgi apparatus to lamellar granule in human granular layer keratinocytes []. | Short Name: | ABCA12 |
| GO Term | Gene Name |
|---|---|
| GO:0005215 | IPR030371 |
| GO:0006869 | IPR030371 |
| GO:0016021 | IPR030371 |
