LP31878-9
NPHS1 gene
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Description
The NPHS1 gene (nephrosis 1, congenital, Finnish type (nephrin)) [HGNC Gene ID:7908] is located on chromosome 19q13.1. This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4868] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- NPHS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- NPHS1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NPHS1 基因 Synonyms: CNF; |
| et-EE | Estonian (Estonia) | NPHS1 geen |
| es-ES | Spanish (Spain) | Gen NPHS1 |
| it-IT | Italian (Italy) | NPHS1, gene Synonyms: Gene NPHS1 |
| tr-TR | Turkish (Turkey) | NPHS1 geni |
| ru-RU | Russian (Russian Federation) | NPHS1 ген |
| nl-NL | Dutch (Netherlands) | NPHS1-gen Synonyms: NPHS1 gen |
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