CBLN1

Chr 16

cerebellin 1 precursor

NCBI Gene: 869 ENSG00000102924 UniProt: P23435

This gene encodes cerebellin, a synaptic organizer protein that is essential for synapse integrity and synaptic plasticity in the cerebellum, particularly at parallel fiber-Purkinje cell synapses where it mediates pre- and post-synaptic matching through NRXN1-CBLN1-GRID2 complexes. Mutations cause autosomal recessive cerebellar ataxia with onset typically in infancy or early childhood, characterized by developmental delay, hypotonia, and progressive cerebellar dysfunction. The gene shows moderate tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 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)

—

P/LP submissions

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P/LP missense

0.98

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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