ABCA12
Gene name: ATP-binding cassette, sub-family A (ABC1), member 12OMIM ID: 607800
Chromosome location: 2q34
Mutations
| Disease/Phenotype | Ichthyosis, congenital, autosomal recessive 4A |
|---|---|
| Reference transcript | NM_173076.2 |
| DNA Change | c.4139A>G |
| A.A. Change | p.Asn1380Ser |
| Exon/Intron | exon 28 |
| Mutation Type | substitution |
| Reference | Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J.Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003 Sep 15;12(18):2369-78. |
| Disease/Phenotype | Ichthyosis, congenital, autosomal recessive 4A |
|---|---|
| Reference transcript | NM_173076.2 |
| DNA Change | c.4142G>A |
| A.A. Change | p.Gly1381Glu |
| Exon/Intron | exon 28 |
| Mutation Type | substitution |
| Reference | Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J.Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003 Sep 15;12(18):2369-78. |