Literature summary for 2.8.2.17 extracted from

Tuysuz, B.; Mizumoto, S.; Sugahara, K.; Celebi, A.; Mundlos, S.; Turkmen, S.
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3 (2009), Clin. Genet., 75, 375-383.

Search for more literature for 2.8.2.17

Cloned(Commentary)

Cloned (Comment)	Organism
gene CHST3, expression of Flag-tagged wild-type andmutant enzymes	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
T141M	homozygous missense mutation leading to a reduction of C6ST-1 activity to 24-29% of the wild type enzyme, the naturally occuring missense mutation in exon 3 of gene CHST3 causes Omani-type spondyloepiphyseal dysplasia with cardiac involvement, phenotype with skeletal features, cardiac involvement including mitral, tricuspid and/or aortic regurgitations and type E brachydactyly, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q7LGC8	gene CHST3	-

Synonyms

Synonyms	Comment	Organism
C6ST-1	-	Homo sapiens
chondroitin 6-O-sulfotransferase-1	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3	Homo sapiens

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Release 2023.1 (January 2023)