Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
ARCI4A,ARCI4B,ICR2B,LI2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26154
MIM: 607800
HGNC: 14637
Ensembl: ENSG00000144452
Variants:
dbSNP: 26154
ClinVar: 26154
TCGA: ENSG00000144452
COSMIC: ABCA12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000144452 | ENST00000272895 | Q86UK0 |
| ENSG00000144452 | ENST00000389661 | Q86UK0 |
| ENSG00000144452 | ENST00000412081 | E9PBK1 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37752865 | 2024 | Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. | 0 |
| 38085035 | 2024 | Novel variants in ABCA12 cause erythrokeratodermia variabilis. | 0 |
| 38540347 | 2024 | Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. | 1 |
| 38576105 | 2024 | Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. | 0 |
| 37752865 | 2024 | Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. | 0 |
| 38085035 | 2024 | Novel variants in ABCA12 cause erythrokeratodermia variabilis. | 0 |
| 38540347 | 2024 | Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. | 1 |
| 38576105 | 2024 | Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. | 0 |
| 36980989 | 2023 | Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. | 3 |
| 37602715 | 2023 | Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations. | 0 |
| 37762265 | 2023 | Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP). | 1 |
| 36980989 | 2023 | Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. | 3 |
| 37602715 | 2023 | Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations. | 0 |
| 37762265 | 2023 | Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP). | 1 |
| 35964051 | 2022 | Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. | 6 |
Citation
Dessen P
ABCA12 (ATP binding cassette subfamily A member 12)
Atlas Genet Cytogenet Oncol Haematol. 2008-01-01
Online version: http://atlasgeneticsoncology.org/gene/49964/abca12
