STK32B

Chr 4

serine/threonine kinase 32B

Also known as: HSA250839, STK32, STKG6, YANK2

NCBI Gene: 55351 ENSG00000152953 UniProt: Q9NY57

This gene encodes a serine-threonine protein kinase that transfers phosphate groups to serine and threonine residues. Genomic deletions affecting STK32B have been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. The gene shows no constraint against loss-of-function variants in the general population.

ResearchSummary from RefSeq

This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.00

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)