CAMTA1

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.

Changes in the CAMTA1 gene were identified in a UDN participant with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy) (read full description).

Date of Report

Oct 18, 2022

Full Name

Calmodulin binding transcription activator 1

Location
Chromosome 1 (1p36.31-p36.23)
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Function

The CAMTA1 gene encodes a calcium-responsive transcriptional regulator that is highly expressed in the cerebral cortex and cerebellum (Jacobs et al., 2021).

Database Links

GeneCards: GC01P006966

NCBI Gene: 23261

OMIM: 611501

UniProtKB/Swiss-Prot: Q9Y6Y1

Clinical Significance

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

Gene CAMTA1
Inheritance Pattern Autosomal dominant
Position (hg19) chr1:g.7724501C>T & g.7812577C>T
Transcript NM_015215.3
DNA Change c.1894C>T & c.4942C>T
Protein Change p.His632Tyr & p.Arg1648Cys
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