LP63480-5
PKHD1 gene
Active
Description
The PKHD1 gene (polycystic kidney and hepatic disease 1 (autosomal recessive)) [HGNC Gene ID:9016] is located on chromosome 6p12.2. The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5314] 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 Name
- PKHD1 gene
- Part Display Name
- PKHD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-19
- Construct for LOINC Short Name
- PKHD1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PKHD1 基因 Synonyms: ARPKD; |
| es-ES | Spanish (Spain) | Gen PKHD1 |
| it-IT | Italian (Italy) | PKHD1, gene Synonyms: Gene PKHD1 |
| et-EE | Estonian (Estonia) | PKHD1 geen |
| tr-TR | Turkish (Turkey) | PKHD1 geni |
| ru-RU | Russian (Russian Federation) | PKHD1 ген |
| nl-NL | Dutch (Netherlands) | PKHD1-gen Synonyms: PKHD1 gen |
| el-GR | Greek (Greece) | Γονίδιο PKHD1 Synonyms: Γονίδιο PKHD1 |
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