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.

A change in the P3H1 gene was identified in a male, age 10 with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) (read full description).

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: 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

Position (hg19) chr1:g.43218209T>C

Transcript NM_022356.3

DNA Change c.1472A>G

Protein Change p.Asn491Ser

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