CLPB

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 CLPB 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

Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit B

Location

Chromosome 11 (11q13.4)

Function

The CLPB gene encodes for a protein whose function is not entirely understood. Preliminary research shows it encodes for a chaperone protein, which is involved in properly refolding other misfolded proteins so that they are able to function properly. This gene is also seen to be highly expressed in the brain (MedlinePlus).

Database Links

GeneCards: CLPB

MedlinePlus Genetics: CLPB

NCBI Gene: 81570

OMIM: 616254

UniProtKB/Swiss-Prot: Q9H078

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 CLPB

Inheritance Pattern Unknown

Position (hg19) chr11:g.72004487A>G

Transcript NM_030813.6

DNA Change c.2048T>C

Protein Change p.Ile683Thr

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