LP101429-1
NPHP1 gene
Active
Descriptions
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in NPHP1 gene cause familial juvenile nephronophthisis 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 NPHP1 gene (nephronophthisis 1 (juvenile)) [HGNC Gene ID:7905] is located on chromosome 2q13. This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4867] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- NPHP1 gene
- Part Display Name
- NPHP1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-08-02
- Construct for LOINC Short Name
- NPHP1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NPHP1 基因 Synonyms: FLJ97602; |
| et-EE | Estonian (Estonia) | NPHP1 geen |
| es-ES | Spanish (Spain) | Gen NPHP1 |
| it-IT | Italian (Italy) | NPHP1, gene Synonyms: Gene NPHP1 |
| tr-TR | Turkish (Turkey) | NPHP1 geni |
| ru-RU | Russian (Russian Federation) | NPHP1 ген |
| nl-NL | Dutch (Netherlands) | NPHP1-gen Synonyms: NPHP1 gen |
| fr-FR | French (France) | NPHP1 gène |
| pl-PL | Polish (Poland) | NPHP1 gen Synonyms: Gen NPHP1 |
| el-GR | Greek (Greece) | Γονίδιο NPHP1 Synonyms: Γονίδιο NPHP1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://