EC Number   |
Protein Variants |
Reference |
|---|
    2.4.1.174 | H234R |
naturally occuring mutation in exon 5 of gene ChGn1, the mutant shows neuropathy, Bells palsy and/or hereditary motor and sensory neuropathy, the mutant enzyme is inactive |
722884 |
| 2.4.1.174 | M509R |
naturally occuring mutation in exon 10 of gene ChGn1, the mutant shows neuropathy, Bells palsy and/or hereditary motor and sensory neuropathy, the mutant enzyme is inactive |
722884 |
| 2.4.1.174 | more |
bi-allelic loss-of-function mutations in CSGALNACT1 produce a skeletal dysplasia reminiscent of the skeletal dysplasia of Csgalnact1-/- mice, and adds to the genetic heterogeneity of Desbuquois dysplasia (DD) |
759329 |
| 2.4.1.174 | more |
construction of CSGalNAcT1-null mice by homologous recombination using an embryonic stem cell line, RENKA, developed from the wild-type C57BL/6N strain |
-, 721527 |
| 2.4.1.174 | more |
construction of enzyme knockout mutant ChGn-1-/- |
-, 736493 |
| 2.4.1.174 | more |
construction of enzyme knockout mutant ChGn-2-/- |
-, 736493 |
| 2.4.1.174 | more |
construction of L-shRNA ChGn-1-1 and L-shRNA ChGn-1-2 transfected L cells, and analysis of chondroitin sulfate chain lengths. The silencing of the genes results in a 60-80% reduction in steady-state ChGn-1 mRNA and an 18-22% decrease in CS when compared with control L cells. Overexpression of ChGn-1 slightly increases CS levels in L cells |
721534 |
| 2.4.1.174 | more |
construction of RNAi-mediated gene Csgalnact1 knockout mice, mutant T1KO. T1KO mice are viable, but they have abnormal bone development and 10% shorter bodies compared to wild-type mice. Heparan sulfate synthesis increases in injured spinal cords of T1KO mice |
736871 |
| 2.4.1.174 | more |
downregulation of CSS1 by siRNA |
723586 |
| 2.4.1.174 | more |
generation of Csgalnact1-/- mice by using a targeting vector for Csgalnact1 gene disruption |
-, 722738 |
