P3H1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here

Date of Report

May 08, 2018

Full Name

prolyl 3-hydroxylase 1

Location
Chromosome 1 (1p34.2)


Function

The P3H1 gene codes for a protein involved in collagen biosynthesis, folding, and assembly (Vranka et al., 2004).

Database Links

GeneCards:  GC01M042746

Genetics Home Reference: P3H1

NCBI Gene: 64175

OMIM: 610339

UniProtKB/Swiss-Prot: Q32P28

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene P3H1
Inheritance Pattern Autosomal recessive (one variant identified)
Position Chr1: 43218209
Transcript NM_022356.3
DNA Change c.1472A>G
Protein Change p.Asn491Ser
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!