ACYP2 Chromosome 2
Acylphosphatase 2
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What This Gene Does
Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Associated Conditions (1)
Chronic osteomyelitis
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11125529 | Health Risk | association | Chronic osteomyelitis, Chronic osteomyelitis |