Aliases for CSGALNACT2 Gene
- Chondroitin Sulfate N-Acetylgalactosaminyltransferase 2 2 3 4 5
- GALNACT2 2 3 4
- Glucuronylgalactosylproteoglycan 4-Beta-N-Acetylgalactosaminyltransferase 2 2 3
- Chondroitin Beta1,4 N-Acetylgalactosaminyltransferase 2 2 3
- GALNACT-2 2 3
- PRO0082 2 3
- CHGN2 3 4
- Chondroitin Beta-1,4-N-Acetylgalactosaminyltransferase 2 4
External Ids for CSGALNACT2 Gene
Previous GeneCards Identifiers for CSGALNACT2 Gene
This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
GeneCards Summary for CSGALNACT2 Gene
CSGALNACT2 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 2) is a Protein Coding gene. Diseases associated with CSGALNACT2 include Coffin-Siris Syndrome 1 and Coffin-Siris Syndrome 2. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylgalactosaminyltransferase activity and glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CSGALNACT1.
UniProtKB/Swiss-Prot Summary for CSGALNACT2 Gene
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.