ABCA12 Chromosome 2
ATP binding cassette subfamily A member 12
Upload your DNA to see your personal genotypes for variants in ABCA12.
What This Gene Does
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ATP binding cassette subfamily A|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000144452
Associated Conditions (13)
Inborn genetic diseases
Congenital ichthyosis of skin
ABCA12-related disorder
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 4A
Thyroid cancer
nonmedullary
1
Lamellar ichthyosis
Abnormality of the skin
See cases
Ichthyosis and erythrokeratoderma
Gastric cancer
Key Variants
RS1053028479
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1249431423
Conflicting classifications of pathogenicity
Health Risk
RS1286289900
Conflicting classifications of pathogenicity
Health Risk
RS138504099
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, ABCA12-related disorder, Congenital ichthyosis of skin
Health Risk
RS138952646
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138995566
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, Inborn genetic diseases, Congenital ichthyosis of skin
Health Risk
RS139124977
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, Congenital ichthyosis of skin
Health Risk
RS139223000
Conflicting classifications of pathogenicity
Health Risk
RS140033094
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, Congenital ichthyosis of skin
Health Risk
RS140742656
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, ABCA12-related disorder, Congenital ichthyosis of skin
Health Risk
RS140745167
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140847485
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, Congenital ichthyosis of skin
Health Risk
All Variants (267)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS758756716 | Health Risk | Pathogenic | — |
| RS761557390 | Health Risk | Pathogenic | — |
| RS763182554 | Health Risk | Pathogenic | — |
| RS763481375 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A |
| RS767707248 | Health Risk | Pathogenic | — |
| RS769817025 | Health Risk | Pathogenic | — |
| RS775127288 | Health Risk | Pathogenic | — |
| RS80181772 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B |
| RS1064794286 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1187032187 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A |
| RS1452228678 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A |
| RS1699587892 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B |
| RS28940270 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 4A, ABCA12-related disorder, Lamellar ichthyosis |
| RS28940568 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A |
| RS375702318 | Health Risk | Pathogenic/Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS772046102 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS780940154 | Health Risk | Pathogenic/Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |