P4HA2
Chr 5ADprolyl 4-hydroxylase subunit alpha 2
Also known as: MYP25, lncRNA-PE
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
gnomad: Error: gnomAD API error: 400
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
P4HA2 · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
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