Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCA12

Gene name: ATP-binding cassette, sub-family A (ABC1), member 12
OMIM ID: 607800
Chromosome location: 2q34

Mutations

Disease/PhenotypeIchthyosis, congenital, autosomal recessive 4A
Reference transcriptNM_173076.2
DNA Changec.4139A>G
A.A. Changep.Asn1380Ser
Exon/Intronexon 28
Mutation Typesubstitution
ReferenceLefevre 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/PhenotypeIchthyosis, congenital, autosomal recessive 4A
Reference transcriptNM_173076.2
DNA Changec.4142G>A
A.A. Changep.Gly1381Glu
Exon/Intronexon 28
Mutation Typesubstitution
ReferenceLefevre 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.