COG1

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 female, age 3 with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia) (read full description).

Date of Report

Jun 24, 2019

Full Name

component of oligomeric Golgi complex 1

Location
Chromosome 17 (17q25.1)


Function

The COG1 gene encodes a protein that is part of the conserved oligomeric Golgi (COG) complex. This complex plays an important role in Golgi structure and function and is involved in intracellular membrane trafficking (Ungar et al., 2002).

Database Links

GeneCards: GC17P073193

Genetics Home Reference: COG1

NCBI Gene: 9382

OMIM: 606973

UniProtKB/Swiss-Prot: Q8WTW3

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 COG1
Inheritance Pattern unknown
Position chr17:71189228
Transcript NM_018714.2
DNA Change c.20C>T
Protein Change p.Ser7Leu
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