XYLT1
Function
Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:23982343, PubMed:24581741). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:23982343, PubMed:24581741). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity).
Involvement in disease
Desbuquois dysplasia 2
DBQD2
A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.
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.
Pathway
Glycan metabolism; chondroitin sulfate biosynthesis.
Glycan metabolism; heparan sulfate biosynthesis.
Post-translational modifications
Contains 7 disulfide bonds.
N-glycosylated.
Sequence Similarities
Belongs to the glycosyltransferase 14 family. XylT subfamily.
Tissue Specificity
Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.
Cellular localization
- Golgi apparatus membrane
- Single-pass type II membrane protein
- Secreted
- Detected predominantly in the Golgi apparatus.
Alternative names
XT1, XYLT1, Xylosyltransferase 1, Peptide O-xylosyltransferase 1, Xylosyltransferase I, XT-I, XylT-I