LP36724-0
PKD1 gene
Active
Description
The PKD1 gene (polycystic kidney disease 1 (autosomal dominant)) [HGNC Gene ID:9008] is located on chromosome 16p13.3. This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] [NCBI Gene ID:5310] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PKD1 gene
- Part Display Name
- PKD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-07
- Construct for LOINC Short Name
- PKD1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP36724-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PKD1 基因 Synonyms: Polycystin-1 前体; |
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