CAMTA1

Chr 1

calmodulin binding transcription activator 1

Also known as: CANPMR, CECBA

NCBI Gene: 23261 ENSG00000171735 UniProt: Q9Y6Y1

The CAMTA1 protein is a transcription factor containing DNA-binding domains, ankyrin repeats, and calmodulin-binding motifs that functions in the nucleus. Loss-of-function mutations cause autosomal dominant cerebellar dysfunction with variable cognitive and behavioral abnormalities. The gene is highly intolerant to loss-of-function variants, supporting haploinsufficiency as the mechanism of disease.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCerebellar dysfunction with variable cognitive and behavioral abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

cerebellar dysfunction with variable cognitive and behavioral abnormalities · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429