LP101431-7
UMOD gene
Active
Descriptions
The Tamm-Horsfall glycoprotein (THP) also known as uromodulin is a glycoprotein that in humans is encoded by the UMOD gene. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Wikipedia
The UMOD gene (uromodulin) [HGNC Gene ID:12559] is located on chromosome 16p12.3. 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] [NCBI Gene ID:7369] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- UMOD gene
- Part Display Name
- UMOD gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-08-02
- Construct for LOINC Short Name
- UMOD gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen UMOD |
| et-EE | Estonian (Estonia) | UMOD geen |
| it-IT | Italian (Italy) | UMOD, gene Synonyms: Gene UMOD |
| tr-TR | Turkish (Turkey) | UMOD geni |
| zh-CN | Chinese (China) | UMOD 基因 Synonyms: UMOD; |
| ru-RU | Russian (Russian Federation) | UMOD ген |
| nl-NL | Dutch (Netherlands) | UMOD-gen Synonyms: UMOD gen |
| el-GR | Greek (Greece) | Γονίδιο UMOD Synonyms: Γονίδιο UMOD |
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