Gene: PLOD3

Alternate names for this Gene: LH3

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

Type of Gene: protein-coding

Gene: ZNHIT1

Alternate names for this Gene: CG1I|ZNFN4A1

Gene Summary:

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: zinc finger HIT-type containing 1

Type of Gene: protein-coding