HYI Chromosome 1

Hydroxypyruvate isomerase (putative)

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Key Variants

RS141158872

Conflicting classifications of pathogenicity

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS141158872	Health Risk	Conflicting classifications of pathogenicity	—