LP208429-3
PEX1 gene
Active
Description
The PEX1 gene (peroxisomal biogenesis factor 1) [HGNC Gene ID:8850] is located on chromosome 7q21.2. This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] [NCBI Gene ID:5189] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PEX1 gene
- Part Display Name
- PEX1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- PEX1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PEX1 基因 Synonyms: 过氧化物酶体生物合成因子 1; |
| es-ES | Spanish (Spain) | Gen PEX1 |
| it-IT | Italian (Italy) | gene PEX1 |
| nl-NL | Dutch (Netherlands) | PEX1-gen Synonyms: PEX1 gen |
| fr-FR | French (France) | PEX1 gène |
| pl-PL | Polish (Poland) | PEX1 gen Synonyms: Gen PEX1 |
| el-GR | Greek (Greece) | Γονίδιο PEX1 Synonyms: Γονίδιο PEX1 |
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://