CUL7

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 CUL7 gene was identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).

Date of Report

Feb 21, 2019

Full Name

cullin 7

Location
Chromosome 6 (6p21.1)


Function

The CUL7 gene codes for a protein involved in the ubiquitin-proteasome system responsible for disposal of excess or unnecessary proteins (Skaar JR, Arai T, Decaprio JA, 2005)

Database Links

GeneCards: GC06M043037

Genetics Home Reference: CUL7

NCBI Gene: 9820 

OMIM: 609577

UniProtKB/Swiss-Prot: Q14999

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 CUL7
Inheritance Pattern Autosomal recessive
Position Chr7:43006687
Transcript NM_014780
DNA Change c.4333C>T
Protein Change p.R1445X
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