ACBD5 Chromosome 10
Acyl-CoA binding domain containing 5
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What This Gene Does
This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Associated Conditions (6)
See cases
Inborn genetic diseases
ACBD5-related disorder
Retinal dystrophy with leukodystrophy
Familial cancer of breast
Retinal disorder
Key Variants
RS1564574359
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS191654621
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199700938
Conflicting classifications of pathogenicity
ACBD5-related disorder, ACBD5-related disorder
Health Risk
RS200245623
Conflicting classifications of pathogenicity
Inborn genetic diseases, ACBD5-related disorder, Inborn genetic diseases
Health Risk
RS201249215
Conflicting classifications of pathogenicity
Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy
Health Risk
RS201279624
Conflicting classifications of pathogenicity
Health Risk
RS750902549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751802868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1488711963
Likely pathogenic
Health Risk
RS1554837576
Likely pathogenic
Health Risk
RS2062606991
Likely pathogenic
Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy
Health Risk
RS2137068260
Likely pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564574359 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS191654621 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199700938 | Health Risk | Conflicting classifications of pathogenicity | ACBD5-related disorder, ACBD5-related disorder |
| RS200245623 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ACBD5-related disorder, Inborn genetic diseases |
| RS201249215 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy |
| RS201279624 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750902549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751802868 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1488711963 | Health Risk | Likely pathogenic | — |
| RS1554837576 | Health Risk | Likely pathogenic | — |
| RS2062606991 | Health Risk | Likely pathogenic | Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy |
| RS2137068260 | Health Risk | Likely pathogenic | — |
| RS2540423816 | Health Risk | Likely pathogenic | — |
| RS2540889666 | Health Risk | Likely pathogenic | — |
| RS775769747 | Health Risk | Likely pathogenic | — |
| RS778394237 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS1402948915 | Health Risk | Pathogenic | — |
| RS2065341675 | Health Risk | Pathogenic | — |
| RS2138617864 | Health Risk | Pathogenic | — |
| RS2540392429 | Health Risk | Pathogenic | — |
| RS2540520556 | Health Risk | Pathogenic | — |
| RS2540995231 | Health Risk | Pathogenic | — |
| RS2541365590 | Health Risk | Pathogenic | — |
| RS2541724555 | Health Risk | Pathogenic | — |
| RS778846494 | Health Risk | Pathogenic | — |
| RS867451420 | Health Risk | Pathogenic | Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy |
| RS1426447692 | Health Risk | Pathogenic/Likely pathogenic | Retinal disorder, Retinal disorder |