ACYP2 Chromosome 2

Acylphosphatase 2
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS11125529 Health Risk association Chronic osteomyelitis, Chronic osteomyelitis
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