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Details on Person Carbohydrate sulfotransferase 14 (CHST14 also known as D4ST-...
| Class:Id | Summation:3636870 |
|---|---|
| _displayName | Carbohydrate sulfotransferase 14 (CHST14 also known as D4ST-... |
| _timestamp | 2014-07-11 09:51:54 |
| created | [InstanceEdit:3636876] Jassal, B, 2013-05-29 |
| modified | [InstanceEdit:4006087] Jassal, B, 2013-07-26 [InstanceEdit:5607074] Jassal, Bijay, 2014-07-10 [InstanceEdit:5607512] Jassal, Bijay, 2014-07-11 |
| text | Carbohydrate sulfotransferase 14 (CHST14 also known as D4ST-1) mediates the transfer of sulfate to position 4 of further N-acetylgalactosamine (GalNAc) residues of dermatan sulfate (DS). Defects in CHST14 cause Ehlers-Danlos syndrome, musculocontractural type (MIM:601776). The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders that share common features such as skin hyperextensibility, articular hypermobility and tissue fragility (Beighton et al. 1998). The musculocontractural form of EDS (MIM:601776) include distinctive characteristics such as craniofacial dysmorphism, congenital contractures of fingers and thumbs, clubfeet, severe kyphoscoliosis and muscular hypotonia (Malfait et al. 2010). |
| (summation) | [Pathway:3595174] Defective CHST14 causes EDS, musculocontractural type [Homo sapiens] |
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No pathways have been reviewed or authored by Carbohydrate sulfotransferase 14 (CHST14 also known as D4ST-... (3636870)
