CAMTA1 gene

calmodulin binding transcription activator 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcriptional activator. May act as a tumor suppressor.

From NCBI Gene:

  • Cerebellar ataxia, nonprogressive, with mental retardation

From UniProt:

Cerebellar ataxia, non-progressive, with mental retardation (CANPMR): A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. [MIM:614756]

Cytogenetic Location: 1p36.31-p36.23, which is the short (p) arm of chromosome 1 between positions 36.31 and 36.23

Molecular Location: base pairs 6,785,324 to 7,769,706 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.31-p36.23, which is the short (p) arm of chromosome 1 between positions 36.31 and 36.23
  • CANPMR