ACYP1
acylphosphatase 1
Summary
This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Known Variants2 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7303 | 14:75,520,065 | T/C | upstream gene variant | — |
| rs756311757 | 14:75,520,251 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.