LP71428-4
HPS1 gene
Active
Description
The HPS1 gene (Hermansky-Pudlak syndrome 1) [HGNC Gene ID:5163] is located on chromosome 10q23.1-q23.3. This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3257] 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
- HPS1 gene
- Part Display Name
- HPS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- HPS1 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) | HPS1 基因 Synonyms: Hermansky-Pudlak syndrome 1; |
| et-EE | Estonian (Estonia) | HPS1 geen |
| es-ES | Spanish (Spain) | Gen HPS1 |
| it-IT | Italian (Italy) | HPS1, gene Synonyms: Gene HPS1 |
| tr-TR | Turkish (Turkey) | HPS1 geni |
| ru-RU | Russian (Russian Federation) | HPS1 ген |
| nl-NL | Dutch (Netherlands) | HPS1-gen Synonyms: HPS1 gen |
| fr-FR | French (France) | HPS1 gène |
| pl-PL | Polish (Poland) | HPS1 gen Synonyms: Gen HPS1 |
| el-GR | Greek (Greece) | Γονίδιο HPS1 Synonyms: Γονίδιο HPS1 |
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://