CSGALNACT2

Chr 10

chondroitin sulfate N-acetylgalactosaminyltransferase 2

Also known as: CHGN2, ChGn-2, GALNACT-2, GALNACT2, PRO0082, beta4GalNAcT

NCBI Gene: 55454 ENSG00000169826 UniProt: Q8N6G5 OMIM: 616616

The encoded protein transfers N-acetylgalactosamine to glucuronic acid during chondroitin sulfate synthesis, functioning in both initial core tetrasaccharide modification and chondroitin chain elongation. Mutations cause autosomal recessive spondyloepimetaphyseal dysplasia with joint laxity, characterized by skeletal abnormalities and connective tissue involvement. The gene shows moderate constraint against loss-of-function variants, supporting its essential role in skeletal development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

—

Mechanism