XYLT2
Function
Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.
Involvement in disease
Spondyloocular syndrome
SOS
A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Pseudoxanthoma elasticum
PXE
A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.
None
The gene represented in this entry acts as a disease modifier. PXE patients carrying causative ABCC6 mutations, manifest a more severe disease course characterized by earlier onset, frequent skin lesions and higher organ involvement, in the presence of XYLT2 variants.
Pathway
Glycan metabolism; chondroitin sulfate biosynthesis.
Glycan metabolism; heparan sulfate biosynthesis.
Post-translational modifications
Contains disulfide bonds.
Sequence Similarities
Belongs to the glycosyltransferase 14 family. XylT subfamily.
Tissue Specificity
Widely expressed. Expressed at higher level in kidney and pancreas.
Cellular localization
- Golgi apparatus membrane
- Single-pass type II membrane protein
- Secreted
Alternative names
XT2, UNQ3058/PRO9878, XYLT2, Xylosyltransferase 2, Peptide O-xylosyltransferase 1, Xylosyltransferase II, XT-II, XylT-II