Dual serine/threonine and tyrosine protein kinase
The protein encoded by the DSTYK gene plays an important role in signal transduction during development, so it comes as no surprise that mutations are responsible for autosomal dominant kidney and urinary tract malformations.
Genetests:
Related Diseases:
References:
1. |
Seki N et al. (1997) Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.
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2. |
Sanna-Cherchi S et al. (2013) Mutations in DSTYK and Dominant Urinary Tract Malformations.
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3. |
Zha J et al. (2004) RIP5 is a RIP-homologous inducer of cell death.
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4. |
Orphanet article
Orphanet ID 406487
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5. |
NCBI article
NCBI 25778
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6. |
OMIM.ORG article
Omim 612666
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Update: Aug. 14, 2020