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: SEC24C

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	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
SEC24C	Autosomal recessive	chr10:g.75529751T>C & g.75530080C>T	NM_004922.3	c.2840T>C & c.2905C>T	p.Phe947Ser & p.Arg969Ter

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!