CACYBP

Chr 1

calcyclin binding protein

Also known as: GIG5, PNAS-107, S100A6BP, SIP

NCBI Gene: 27101 ENSG00000116161 UniProt: Q9HB71

The protein serves as a molecular bridge in ubiquitin E3 complexes and participates in calcium-dependent ubiquitination and proteasomal degradation of target proteins, including beta-catenin. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and dystonia. The gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism

Some data sources returned errors (1)

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