CALML3

Chr 10

calmodulin like 3

ENSG00000178363 UniProt: P27482 OMIM: 114184

CALML3 encodes a calcium-binding protein that functions as a specific light chain of unconventional myosin-10 and enhances its translation, possibly by acting as a chaperone for the emerging heavy chain protein. Mutations cause autosomal recessive congenital cataracts affecting the eye. The gene shows low constraint to loss-of-function variation, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.90

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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