RNF13

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 this gene was identified in a male, age 24 with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot), and global developmental delay (read full description).

Date of Report

Nov 19, 2019

Full Name

ring finger protein 13

Location
Chromosome 3 (3q25.1)


Function

The RNF13 gene codes for a protein in the PA-TM-RING protein family. It associates with and promotes activation of IRE1a and is an important mediator of endoplasmic reticulum (ER) stress response and the apoptosis pathway (Edvardson et al., 2019).

Database Links

GeneCards: GC03P149812

Genetics Home Reference: RNF13

NCBI Gene: 11342

OMIM: 609247

UniProtKB/Swiss-Prot: O43567

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.

Changes in this gene have also been associated with Epileptic encephalopathy, early infantile, 73 (OMIM 618379).

Gene RNF13
Inheritance Pattern Autosomal dominant
Position Chr3:149678664
Transcript NM_007282.4
DNA Change c.919G>T
Protein Change p.E307*
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