P4HA1 Chromosome 10

Prolyl 4-hydroxylase subunit alpha 1

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Associated Conditions (1)

Congenital disorder of connective tissue

Key Variants

RS755867852

Likely pathogenic

Congenital disorder of connective tissue, Congenital disorder of connective tissue

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS755867852	Health Risk	Likely pathogenic	Congenital disorder of connective tissue, Congenital disorder of connective tissue