PEX19

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 PEX19 gene was identified in a male, age 10, with seizures, structural brain abnormalities, and global developmental delay (read full description).

Date of Report

Mar 07, 2022

Full Name

Peroxisomal Biogenesis Factor 19

Location

Chromosome 1 (1q23.2)

Function

The PEX19 gene encodes for a protein that interacts with peroxisomal membrane proteins (PMP), whose function is not entirely understood. The PEX19 protein is thought to act as a chaperone protein in refolding misfolded PMP proteins, play a role in inserting PMP proteins in the cell membrane, and assist in the creation of peroxisomes (Emmanouilidis, et al., 2017).

Database Links

GeneCards: PEX19

NCBI Gene: 5824

OMIM: 600279

UniProtKB/Swiss-Prot: P40855

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 PEX19

Inheritance Pattern Unknown

Position (hg19) chr1:g.160249586C>T

Transcript NM_002857.3

DNA Change c.816+5G>A

Protein Change N/A

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