PEX7

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 PEX7 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 7

Location

Chromosome 6 (6q23.3)

Function

The PEX7 gene encodes for a protein that is part of a class of proteins known as peroxisomal assembly proteins (PEX), which are involved in transporting other specific proteins such as alkylglycerone phosphate synthase and phytanoyl-CoA hydroxylase into peroxisomes (MedlinePlus).

Database Links

GeneCards: PEX7

MedlinePlus Genetics: PEX7

NCBI Gene: 5191

OMIM: 601757

UniProtKB/Swiss-Prot: O00628

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 PEX7

Inheritance Pattern Unknown

Position (hg19) chr6:g.137219351T>A

Transcript NM_000288.3

DNA Change c.875T>A

Protein Change p.Leu292Ter

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