ABCA7 Chromosome 19
ATP binding cassette subfamily A member 7
Upload your DNA to see your personal genotypes for variants in ABCA7.
What This Gene Does
The 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 intra-cellular 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 full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ATP binding cassette subfamily A|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000064687
Associated Conditions (9)
Alzheimer disease 9
ABCA7-related disorder
Sarcoma
Acute myeloid leukemia
Lung cancer
Cervical cancer
Neuromuscular disease
Primary degenerative dementia of the Alzheimer type
presenile onset
Key Variants
RS150412128
Conflicting classifications of pathogenicity
Health Risk
RS150419414
Conflicting classifications of pathogenicity
Health Risk
RS189260652
Conflicting classifications of pathogenicity
Health Risk
RS200538373
Conflicting classifications of pathogenicity
Alzheimer disease 9, ABCA7-related disorder, Sarcoma
Health Risk
RS201060968
Conflicting classifications of pathogenicity
Alzheimer disease 9, Alzheimer disease 9
Health Risk
RS538591288
Conflicting classifications of pathogenicity
ABCA7-related disorder, ABCA7-related disorder
Health Risk
RS567222111
Conflicting classifications of pathogenicity
Neuromuscular disease, Neuromuscular disease
Health Risk
RS574674874
Conflicting classifications of pathogenicity
Health Risk
RS771494956
Conflicting classifications of pathogenicity
Health Risk
RS547447016
Conflicting classifications of pathogenicity; risk factor
Alzheimer disease 9, Primary degenerative dementia of the Alzheimer type, presenile onset
Health Risk
RS1302770627
Likely pathogenic
ABCA7-related disorder, ABCA7-related disorder
Health Risk
RS149949633
Likely pathogenic
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150412128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150419414 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS189260652 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200538373 | Health Risk | Conflicting classifications of pathogenicity | Alzheimer disease 9, ABCA7-related disorder, Sarcoma |
| RS201060968 | Health Risk | Conflicting classifications of pathogenicity | Alzheimer disease 9, Alzheimer disease 9 |
| RS538591288 | Health Risk | Conflicting classifications of pathogenicity | ABCA7-related disorder, ABCA7-related disorder |
| RS567222111 | Health Risk | Conflicting classifications of pathogenicity | Neuromuscular disease, Neuromuscular disease |
| RS574674874 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771494956 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS547447016 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Alzheimer disease 9, Primary degenerative dementia of the Alzheimer type, presenile onset |
| RS1302770627 | Health Risk | Likely pathogenic | ABCA7-related disorder, ABCA7-related disorder |
| RS149949633 | Health Risk | Likely pathogenic | — |
| RS2041967070 | Health Risk | Likely pathogenic | ABCA7-related disorder, ABCA7-related disorder |
| RS2144710743 | Health Risk | Likely pathogenic | — |
| RS2144883649 | Health Risk | Likely pathogenic | — |
| RS2512353998 | Health Risk | Likely pathogenic | ABCA7-related disorder, ABCA7-related disorder |
| RS551118463 | Health Risk | Likely pathogenic | — |
| RS761115996 | Health Risk | Likely pathogenic | — |
| RS769207938 | Health Risk | Likely pathogenic | ABCA7-related disorder, ABCA7-related disorder |
| RS770510230 | Health Risk | Likely pathogenic | Alzheimer disease 9, Alzheimer disease 9 |
| RS777874744 | Health Risk | Likely pathogenic | — |
| RS779501556 | Health Risk | Likely pathogenic | — |
| RS780510608 | Health Risk | Likely pathogenic | Alzheimer disease 9, Alzheimer disease 9 |
| RS765531464 | Health Risk | Pathogenic | ABCA7-related disorder, ABCA7-related disorder |
| RS2144876596 | Health Risk | risk factor | Alzheimer disease 9, Alzheimer disease 9 |
| RS746307442 | Health Risk | risk factor | Alzheimer disease 9, Alzheimer disease 9 |