ABCA13 Chromosome 7
ATP binding cassette subfamily A member 13
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What This Gene Does
In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
ATP binding cassette subfamily A
Locus Type
gene with protein product
Location
7p12.3
Ensembl
ENSG00000179869
Associated Conditions (6)
ABCA13-related disorder
Thyroid cancer
nonmedullary
1
Intellectual disability without epilepsy
Schizophrenia
Key Variants
RS144916268
Conflicting classifications of pathogenicity
Health Risk
RS188058983
Conflicting classifications of pathogenicity
ABCA13-related disorder, ABCA13-related disorder
Health Risk
RS199548845
Conflicting classifications of pathogenicity
Health Risk
RS202145037
Conflicting classifications of pathogenicity
Health Risk
RS376510526
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS769404377
Conflicting classifications of pathogenicity
Health Risk
RS2128749171
Likely pathogenic
Intellectual disability without epilepsy, Intellectual disability without epilepsy
Health Risk
RS773961513
Likely pathogenic
Intellectual disability without epilepsy, Intellectual disability without epilepsy
Health Risk
RS797045205
Likely pathogenic
Schizophrenia, Schizophrenia
Health Risk
RS781126037
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144916268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188058983 | Health Risk | Conflicting classifications of pathogenicity | ABCA13-related disorder, ABCA13-related disorder |
| RS199548845 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202145037 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376510526 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS769404377 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2128749171 | Health Risk | Likely pathogenic | Intellectual disability without epilepsy, Intellectual disability without epilepsy |
| RS773961513 | Health Risk | Likely pathogenic | Intellectual disability without epilepsy, Intellectual disability without epilepsy |
| RS797045205 | Health Risk | Likely pathogenic | Schizophrenia, Schizophrenia |
| RS781126037 | Health Risk | Pathogenic | — |