FAM20B
Description
The FAM20B (FAM20B glycosaminoglycan xylosylkinase) is a protein-coding gene located on chromosome 1.
FAM20B is a protein encoded by the FAM20B gene in humans.
FAM20B is responsible for adding a phosphate group to xylose, a sugar molecule, in the linkage region between glycosaminoglycans (GAGs) and proteins. This phosphorylation step is crucial for regulating the production of mature GAG chains. GAGs like heparan sulfate and chondroitin sulfate are essential components of proteoglycans, which play a role in various biological processes. The linkage region where FAM20B acts is a specific sequence of sugars (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) attached to the core protein. The phosphorylation of xylose might also influence the activity of another enzyme, B3GAT3, which adds the final sugar to complete the linkage region. This complex chain of events ensures the proper synthesis and function of GAGs.
FAM20B is also known as gxk1.
Associated Diseases
- Gollop-Wolfgang complex
- fibular aplasia-ectrodactyly syndrome
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- metaphyseal anadysplasia
- tibial hemimelia
- acromesomelic dysplasia 2B
- brachydactyly-preaxial hallux varus syndrome
- brachydactyly-syndactyly syndrome
- brachydactyly type A2
- syndactyly type 4
- rhizomelic dysplasia, Ain-Naz type
- acheiropody
- spondyloepimetaphyseal dysplasia, Missouri type
- postaxial polydactyly type A
- rhizomelic chondrodysplasia punctata type 3
