CHST3 Antibody

1. We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. PMID: 27753269
2. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss has been described in a consanguineous Pakistani pedigree. PMID: 26572954
3. Sequencing of CHST3 detected a previously unreported homozygous duplication c.407_426dup (p.Thr143Cysfs*80). The mutation is predicted to lead to frameshift and introduction of a premature stopcodon. PMID: 24300290
4. expression of CHST3 mRNA was significantly reduced in the intervertebral disc cells of subjects carrying the A allele of rs4148941 PMID: 24216480
5. The results of this study indicated that the critical period for cortical plasticity is regulated by the 4S/6S ratio of CSPGs, which determines the maturation of parvalbumin-expressing interneurons. PMID: 22246436
6. Vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance are characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations. PMID: 20830804
7. report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations PMID: 18513679
8. Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1. PMID: 18697746
9. homozygous missense mutation (T141M) in exon 3 in all three family members with spondyloepiphyseal dysplasia with cardiac involvement PMID: 19320654

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HGNC: 1971

OMIM: 143095

KEGG: hsa:9469

STRING: 9606.ENSP00000362207

UniGene: Hs.158304