LP188509-6
PLOD2 gene
Active
Description
The PLOD2 gene (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2) [HGNC Gene ID:9082] is located on chromosome 3q24. The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough 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 VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5352] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PLOD2 gene
- Part Display Name
- PLOD2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- PLOD2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PLOD2 基因 Synonyms: 前胶原-赖氨酸, 2-酮戊二酸 5-双加氧酶 2; |
| es-ES | Spanish (Spain) | Gen PLOD2 |
| it-IT | Italian (Italy) | PLOD2, gene Synonyms: Gene PLOD2 |
| tr-TR | Turkish (Turkey) | PLOD2 geni |
| nl-NL | Dutch (Netherlands) | PLOD2-gen Synonyms: PLOD2 gen |
| fr-FR | French (France) | PLOD2 gène |
| pl-PL | Polish (Poland) | PLOD2 gen Synonyms: Gen PLOD2 |
| el-GR | Greek (Greece) | Γονίδιο PLOD2 Synonyms: Γονίδιο PLOD2 |
LOINC Copyright
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