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 this gene were identified in two UDN participants.

Date of Report

Oct 18, 2022

Full Name

Calmodulin binding transcription activator 1

Location

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

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: CAMTA1

NCBI Gene: 23261

OMIM: 611501

UniProtKB/Swiss-Prot: Q9Y6Y1

Clinical Significance

Changes in this gene were identified in two UDN participants.

Participant 207, a 47-year-old male with progressive muscle weakness and wasting was found to carry the following genetic changes in the CAMTA1 gene:

c.1894C>T/p.His632Tyr (inheritance pattern: autosomal dominant, position: chr1:g.7724501C>T, transcript: NM_015215.3)
c.4942C>T/p.Arg1648Cys (inheritance pattern: autosomal dominant, position: chr1:g.7812577C>T, transcript: NM_015215.3)

Research is underway to see if this change is causing symptoms in this participant.

Participant 222, an 11-year-old male with gross motor delay, language impairment (aphasia), and autism was found to carry the following genetic change in the CAMTA1 gene:

c.4460C>G/p.Pro1487Arg (inheritance pattern: unknown, position: chr1:g.7805994C>G, transcript: NM_015215.4)

Research is underway to see if this change is causing symptoms in this participant.

Gene CAMTA1

Inheritance Pattern see gene page

Position (hg19) see gene page

Transcript see gene page

DNA Change see gene page

Protein Change see gene page

Contact Us

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