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Literature summary for 2.8.2.17 extracted from

  • Hermanns, P.; Unger, S.; Rossi, A.; Perez-Aytes, A.; Cortina, H.; Bonafe, L.; Boccone, L.; Setzu, V.; Dutoit, M.; Sangiorgi, L.; Pecora, F.; Reicherter, K.; Nishimura, G.; Spranger, J.; Zabel, B.; Superti-Furga, A.
    Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis (2008), Am. J. Hum. Genet., 82, 1368-1374.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene CHST3, gene structure, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
L259P naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease Homo sapiens
L307P naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease Homo sapiens
additional information identification of eight naturally occuring CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations with diagnosis of either Larsen syndrome or humero-spinal dysostosis, the patients show reduced enzyme activity and congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood, genotyping, enzyme mutant phenotypes, overview Homo sapiens
R222W naturally occuring mutation of CHST3 involved in enzyme deficiency and related disease Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3'-phosphoadenylyl sulfate + chondroitin Homo sapiens
-
 adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q7LGC8 gene CHST3
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast dermal Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3'-phosphoadenylyl sulfate + chondroitin
-
 Homo sapiens adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate
-
 ?

Synonyms

Synonyms Comment Organism
carbohydrate sulfotransferase 3
-
 Homo sapiens
CHST3
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of CHST3 is associated with a phenotype of severe chondrodysplasia with progressive spinal involvement Homo sapiens