ABCA2 Chromosome 9
ATP binding cassette subfamily A member 2
Upload your DNA to see your personal genotypes for variants in ABCA2.
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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily A
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000107331
Associated Conditions (3)
ABCA2-related disorder
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Ataxia with Dysarthria
Key Variants
RS143473036
Conflicting classifications of pathogenicity
ABCA2-related disorder, ABCA2-related disorder
Health Risk
RS371050470
Conflicting classifications of pathogenicity
Health Risk
RS763614356
Conflicting classifications of pathogenicity
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Health Risk
RS772518849
Conflicting classifications of pathogenicity
Health Risk
RS2131443090
Likely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Health Risk
RS2131456686
Likely pathogenic
Health Risk
RS2491500575
Likely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Health Risk
RS2538191594
Likely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Health Risk
RS1314532521
Pathogenic
Health Risk
RS1588511352
Pathogenic
Ataxia with Dysarthria, Ataxia with Dysarthria
Health Risk
RS1588512383
Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Health Risk
RS1588524458
Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143473036 | Health Risk | Conflicting classifications of pathogenicity | ABCA2-related disorder, ABCA2-related disorder |
| RS371050470 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763614356 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS772518849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2131443090 | Health Risk | Likely pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS2131456686 | Health Risk | Likely pathogenic | — |
| RS2491500575 | Health Risk | Likely pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS2538191594 | Health Risk | Likely pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS1314532521 | Health Risk | Pathogenic | — |
| RS1588511352 | Health Risk | Pathogenic | Ataxia with Dysarthria, Ataxia with Dysarthria |
| RS1588512383 | Health Risk | Pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS1588524458 | Health Risk | Pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS1588525874 | Health Risk | Pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS2491492843 | Health Risk | Pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |
| RS2491538919 | Health Risk | Pathogenic | Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia |