HACD1 Chromosome 10
3-hydroxyacyl-CoA dehydratase 1
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What This Gene Does
The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
3-hydroxyacyl-CoA dehydratase family
Locus Type
gene with protein product
Location
10p12.33
Ensembl
ENSG00000165996
Associated Conditions (2)
Inborn genetic diseases
Congenital myopathy 11
Key Variants
RS864309602
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2131508948
Likely pathogenic
Health Risk
RS2493868037
Likely pathogenic
Congenital myopathy 11, Congenital myopathy 11
Health Risk
RS782113697
Likely pathogenic
Health Risk
RS1426156076
Pathogenic
Congenital myopathy 11, Congenital myopathy 11
Health Risk
RS1435802242
Pathogenic
Health Risk
RS2493841471
Pathogenic
Congenital myopathy 11, Congenital myopathy 11
Health Risk
RS2493849055
Pathogenic
Health Risk
RS2493859114
Pathogenic
Health Risk
RS2493869193
Pathogenic
Congenital myopathy 11, Congenital myopathy 11
Health Risk
RS2493902455
Pathogenic
Health Risk
RS606231257
Pathogenic
Congenital myopathy 11, Congenital myopathy 11
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS864309602 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2131508948 | Health Risk | Likely pathogenic | — |
| RS2493868037 | Health Risk | Likely pathogenic | Congenital myopathy 11, Congenital myopathy 11 |
| RS782113697 | Health Risk | Likely pathogenic | — |
| RS1426156076 | Health Risk | Pathogenic | Congenital myopathy 11, Congenital myopathy 11 |
| RS1435802242 | Health Risk | Pathogenic | — |
| RS2493841471 | Health Risk | Pathogenic | Congenital myopathy 11, Congenital myopathy 11 |
| RS2493849055 | Health Risk | Pathogenic | — |
| RS2493859114 | Health Risk | Pathogenic | — |
| RS2493869193 | Health Risk | Pathogenic | Congenital myopathy 11, Congenital myopathy 11 |
| RS2493902455 | Health Risk | Pathogenic | — |
| RS606231257 | Health Risk | Pathogenic | Congenital myopathy 11, Congenital myopathy 11 |
| RS782625636 | Health Risk | Pathogenic | — |