ABCA3 Chromosome 16
ATP binding cassette subfamily A member 3
Upload your DNA to see your personal genotypes for variants in ABCA3.
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. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ATP binding cassette subfamily A|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000167972
Associated Conditions (18)
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Interstitial lung disease 2
ABCA3-related disorder
Bullous lung disease
Disorder of lung
Colon adenocarcinoma
Lung cancer
Congenital hyperammonemia
type I
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Diffuse interstitial pulmonary fibrosis
See cases
Sarcoma
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder
Cervical cancer
Loeys-Dietz syndrome
Key Variants
RS1022923684
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
Health Risk
RS1043865919
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
RS114420154
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
Health Risk
RS117603931
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
Health Risk
RS1195611781
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
Health Risk
RS1203870702
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
Health Risk
RS1254014649
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
RS138092785
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease 2, Hereditary pulmonary alveolar proteinosis
Health Risk
RS138442198
Conflicting classifications of pathogenicity
Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
Health Risk
RS139695699
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, ABCA3-related disorder
Health Risk
RS139952718
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, ABCA3-related disorder
Health Risk
RS140502726
Conflicting classifications of pathogenicity
Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
Health Risk
All Variants (213)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2093650935 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency |
| RS2093654880 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency |
| RS2093657764 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2093657780 | Health Risk | Pathogenic | — |
| RS2093682532 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS2093682572 | Health Risk | Pathogenic | — |
| RS2093686699 | Health Risk | Pathogenic | — |
| RS2093701505 | Health Risk | Pathogenic | — |
| RS2141695316 | Health Risk | Pathogenic | — |
| RS2141696548 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS2141705504 | Health Risk | Pathogenic | — |
| RS2141715669 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS2501017765 | Health Risk | Pathogenic | ABCA3-related disorder, ABCA3-related disorder |
| RS2505611427 | Health Risk | Pathogenic | — |
| RS2505611544 | Health Risk | Pathogenic | — |
| RS2505612312 | Health Risk | Pathogenic | — |
| RS2505619224 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2505621915 | Health Risk | Pathogenic | — |
| RS2505623440 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2505625491 | Health Risk | Pathogenic | — |
| RS2505625621 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2505625639 | Health Risk | Pathogenic | — |
| RS2505627227 | Health Risk | Pathogenic | — |
| RS2505627637 | Health Risk | Pathogenic | — |
| RS2505632878 | Health Risk | Pathogenic | ABCA3-related disorder, ABCA3-related disorder |
| RS2505637318 | Health Risk | Pathogenic | ABCA3-related disorder, ABCA3-related disorder |
| RS2505637621 | Health Risk | Pathogenic | See cases, See cases |
| RS2505642538 | Health Risk | Pathogenic | — |
| RS2505649915 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2505649944 | Health Risk | Pathogenic | — |
| RS2505649979 | Health Risk | Pathogenic | — |
| RS2505650129 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS2505666185 | Health Risk | Pathogenic | — |
| RS2505669390 | Health Risk | Pathogenic | — |
| RS2505674511 | Health Risk | Pathogenic | — |
| RS2505675549 | Health Risk | Pathogenic | — |
| RS28936691 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS745941309 | Health Risk | Pathogenic | — |
| RS750071923 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS763166660 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis |
| RS763721411 | Health Risk | Pathogenic | — |
| RS766137929 | Health Risk | Pathogenic | — |
| RS770140490 | Health Risk | Pathogenic | — |
| RS775903641 | Health Risk | Pathogenic | Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency |
| RS776731355 | Health Risk | Pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |
| RS919615608 | Health Risk | Pathogenic | — |
| RS1406324789 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency |
| RS141233327 | Health Risk | Pathogenic/Likely pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS1413175771 | Health Risk | Pathogenic/Likely pathogenic | Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS144653790 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis |