CHSY3
Description
The CHSY3 (chondroitin sulfate synthase 3) is a protein-coding gene located on chromosome 5.
CHSY3 possesses dual transferase activity: it catalyzes the addition of glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the growing chondroitin chain's non-reducing end. Notably, its catalytic efficiency is significantly lower compared to CHSY1.
CHSY3 is also known as CHSY2, CSS3.
Associated Diseases
- Gollop-Wolfgang complex
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- metaphyseal anadysplasia
- fibular aplasia-ectrodactyly syndrome
- tibial hemimelia
- brachydactyly-preaxial hallux varus syndrome
- brachydactyly-syndactyly syndrome
- brachydactyly type A2
- syndactyly type 4
- rhizomelic dysplasia, Ain-Naz type
