UXS1
Description
The UXS1 (UDP-glucuronate decarboxylase 1) is a protein-coding gene located on chromosome 2.
UDP-glucuronic acid decarboxylase 1 is an enzyme that in humans is encoded by the UXS1 gene. UDP-glucuronate decarboxylase (UGD; EC 4.1.1.35) catalyzes the formation of UDP-xylose from UDP-glucuronate.
The UXS1 gene encodes UDP-glucuronic acid decarboxylase 1 (UXS1), an enzyme that catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. This reaction is essential for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis.
UXS1 is also known as SDR6E1, UGD, hUXS, hUXS1.
Associated Diseases
- Gollop-Wolfgang complex
- fibular aplasia-ectrodactyly syndrome
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- metaphyseal anadysplasia
- tibial hemimelia
- osteoarthritis
- acromesomelic dysplasia 2B
