PGAM4 Chromosome X

Phosphoglycerate mutase family member 4
1 variant 1 Health Risk

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What This Gene Does
This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000226784
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS376654190 Health Risk Conflicting classifications of pathogenicity
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