XB-FEAT-479388: Difference between revisions
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The gene page is missing v10 Xla models, but lots of candidates in this region on chr9_10L/S. It will require further investigation to resolve. | The gene page is missing v10 Xla models, but lots of candidates in this region on chr9_10L/S. It will require further investigation to resolve. | ||
=summary for human UMOD from NCBI= | |||
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013] | |||
Revision as of 13:44, 26 September 2024
umod
This is the community wiki page for the gene umod please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
annotation notes
26.09.2024- by CJZ
The gene page is missing v10 Xla models, but lots of candidates in this region on chr9_10L/S. It will require further investigation to resolve.
summary for human UMOD from NCBI
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]