SEC24C

On this page, you will find information about genetic changes that were 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.

Changes in this gene were identified in a female, age 18 with seizures, severe intellectual disability, regression, and abnormal brain findings (read full description).

Date of Report

Mar 25, 2019

Full Name

SEC24 homolog C, COPII coat complex component

Location
Chromosome 10 (10q22.2)


Function

The SEC24C gene codes for a component of the coat protein II-coated complex, which promotes the formation of transport vesicles from the endoplasmic reticulum (OMIM).

Database Links

GeneCards: GC10P073744

NCBI Gene: 9632

OMIM: 607185

UniProtKB/Swiss-Prot: P53992

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene SEC24C
Inheritance Pattern Autosomal recessive
Position chr10:75529751; chr10:75530080
Transcript NM_004922.3
DNA Change c.2840T>C; c.2905C>T
Protein Change p.F947S; p.R969X
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