LP71436-7
PLOD1 gene
Active
Description
The PLOD1 gene (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) [HGNC Gene ID:9081] is located on chromosome 1p36.22. Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5351] 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
- PLOD1 gene
- Part Display Name
- PLOD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- PLOD1 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) | PLOD1 基因 Synonyms: 前胶原-赖氨酸, 2-酮戊二酸 5-双加氧酶 1; |
| et-EE | Estonian (Estonia) | PLOD1 geen |
| es-ES | Spanish (Spain) | Gen PLOD1 |
| it-IT | Italian (Italy) | PLOD1, gene Synonyms: Gene PLOD1 |
| tr-TR | Turkish (Turkey) | PLOD1 geni |
| ru-RU | Russian (Russian Federation) | PLOD1 ген |
| nl-NL | Dutch (Netherlands) | PLOD1-gen Synonyms: PLOD1 gen |
| fr-FR | French (France) | PLOD1 gène |
| pl-PL | Polish (Poland) | PLOD1 gen Synonyms: Gen PLOD1 |
| el-GR | Greek (Greece) | Γονίδιο PLOD1 Synonyms: Γονίδιο PLOD1 |
LOINC Copyright
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