CTNNAL1

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 CTNNAL1 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

Catenin Alpha like 1

Location

Chromosome 9 (9q31.3)

Function

The CTNNAL1 gene may be responsible for modulating the Rho pathway signaling by providing a scaffold for the Lbc Rho guanin nucleotide exchange factor (ARHGEF1) (Park et al., 2002).

Database Links

GeneCards: CTNNAL1

NCBI Gene: 8727

OMIM: 604785

UniProtKB/Swiss-Prot: Q9UBT7

Clinical Significance

A de novo 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 CTNNAL1

Inheritance Pattern Unknown

Position (hg19) chr9:g.111745531_ 111745535delinsGTAT

Transcript NM_003798.4

DNA Change c.790_794delinsATAC

Protein Change p.Arg264IlefsTer13

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