RecName: Full=Glucosylceramide transporter ABCA12; AltName: Full=ATP-b - Protein

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Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. [Exp Dermatol. 2024]
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, et al. Exp Dermatol. 2024 Apr; 33(4):e15072.
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. [Genes (Basel). 2024]
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
Hotz A, Fölster-Holst R, Oji V, Bourrat E, Frank J, Marrakchi S, Ennouri M, Wankner L, Komlosi K, Alter S, et al. Genes (Basel). 2024 Feb 24; 15(3). Epub 2024 Feb 24.
Novel variants in ABCA12 cause erythrokeratodermia variabilis. [Br J Dermatol. 2024]
Novel variants in ABCA12 cause erythrokeratodermia variabilis.
Liu Y, Mo R, Chen Z, Yang Y. Br J Dermatol. 2024 Feb 16; 190(3):454.

RefSeq genomic sequence
See the genomic reference sequence for the ABCA12 gene (NG_007074.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the ABCA12 gene.

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Q86UK0 [Domain Mapping of Disease Mut...]
Q86UK0
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Glucosylceramide transporter ABCA12; AltName: Full=ATP-binding cas...
RecName: Full=Glucosylceramide transporter ABCA12; AltName: Full=ATP-binding cassette sub-family A member 12; AltName: Full=ATP-binding cassette transporter 12; Short=ATP-binding cassette 12
gi|269849713|sp|Q86UK0.3|ABCAC_HUMA

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