CSGALNACT1

CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with CSGALNACT1 include Multiple Sclerosis. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CSGALNACT2.

Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1

Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758, PubMed:31705726).

Moreover, is involved in the metabolism of aggrecan (By similarity).

Cartilage development Source: Ensembl
Chondroitin sulfate biosynthetic process Source: UniProtKB
Chondroitin sulfate proteoglycan biosynthetic process Source: UniProtKB
Chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: UniProtKB
Dermatan sulfate proteoglycan biosynthetic process Source: UniProtKB
Endochondral ossification Source: Ensembl
Extracellular matrix organization Source: Ensembl
Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: UniProtKB
Heparin biosynthetic process Source: UniProtKB
Proteoglycan biosynthetic process Source: UniProtKB
UDP-glucuronate metabolic process Source: UniProtKB
UDP-N-acetylgalactosamine metabolic process Source: UniProtKB

Golgi stack membrane

Skeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA):
An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism.

Cytoplasmic: 1-14
Helical: 15-35
Lumenal: 36-532

N-glycosylated.