STK36 Chromosome 2

Serine/threonine kinase 36
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000163482
Associated Conditions (3)
Ciliary dyskinesia
primary
46
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS78424919 Health Risk Conflicting classifications of pathogenicity
RS763400883 Health Risk Pathogenic Ciliary dyskinesia, primary, 46
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