| Entrez Gene ID | 8985 |
|---|---|
| Official Gene Symbol | PLOD3 (GeneCards) |
| Full name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
| Location | 7q22.1 |
| Other ids | Vega : OTTHUMG00000157111 MIM : 603066 HGNC : HGNC:9083 Ensembl : ENSG00000106397 |
| Other names | LH3 |
| Summary | 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. [provided by RefSeq, Jul 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1516 | 8985 | PLOD3 | 7 | 100850973 | 100850973 | Autism Spectrum Disorders | NextSeq500 v2 |
| 29120 | 8985 | PLOD3 | 7 | 100850973 | 100850973 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq Pyrosequencing |
| 29507 | 8985 | PLOD3 | 7 | 100850973 | 100850973 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq Pyrosequencing MiSeq |