Carbohydrate Sulfotransferase 3

Alternative Names

  • CHST3
  • Chondroitin 6-Sulfotransferase
  • C6ST
  • C6ST1
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OMIM Number

603799

NCBI Gene ID

9469

Uniprot ID

Q7LGC8

Length

49,203 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Carbohydrate Sulfotransferase 3

Molecular Mass

54706 Da

Amino Acid Count

479

Genomic Location

chr10:71,964,362-72,013,564

Gene Map Locus
10q22.1

Description

Carbohydrate Sulfotransferase 3 (CHST3) is an enzyme that catalyzes the transfer of sulphate group from 3' phosphoadenosine 5'-phosphosulphate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Sulphated chondroitin is the most important proteoglycan in cartilages and extracellular matrices, where it plays an important role in maintaining the structural integrity of the tissues. Apart from the GalNAc residues of chondroitin, CHST3 may also play a role in the sulphation of galactosamine residues of keratan sulphate, and sialyl N-acetyllactosamine. At least in mice, a deficiency of the enzyme has been shown to produce a decrease in the number of naïve T-lymphocytes in the spleen, indicating a role in the maintenance of these lymphocytes. In addition, more recent research has shown that the CHST3 gene is up-regulated in the central nervous system after injury, promoting migration of Schwann cells and axonal regeneration.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_004273.5:c.1083_1090del8insCGGCALebanonchr10:72008114-72008121PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48753_48760del8insCGGCA; NM_004273.5:c.1083_1090del8insCGGCA; NP_004264.2:p.361-364WLRG>CGS
NM_004273.5:c.1086delGLebanonchr10:72008117PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48756delG; NM_004273.5:c.1086delG; NP_004264.2:p.Arg363fs6045
NM_004273.5:c.1114G>ALebanonchr10:72008145Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48784G>A; NM_004273.5:c.1114G>A; NP_004264.2:p.Glu372Lys2676067346042
NM_004273.5:c.1148G>CLebanonchr10:72008179Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48818G>C; NM_004273.5:c.1148G>C; NP_004264.2:p.Arg383Pro531087608
NM_004273.5:c.1285C>TLebanonchr10:72008316Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48955C>T; NM_004273.5:c.1285C>T; NP_004264.2:p.Arg429Cys
NM_004273.5:c.141G>CLebanonchr10:72007172PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.47811G>A; NM_004273.5:c.141G>C; NP_004264.2:p.Arg47Ser1564531780
NM_004273.5:c.425G>TLebanonchr10:72007456Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48095G>T; NM_004273.5:c.425G>T; NP_004264.2:p.Arg142Leu898835385
NM_004273.5:c.475T>ALebanonchr10:72007506PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48145T>A; NM_004273.5:c.475T>A; NP_004264.2:p.Phe159Ile1455387236049
NM_004273.5:c.481C>TLebanonchr10:72007512PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48151C>T; NM_004273.5:c.481C>T; NP_004264.2:p.Leu161Phe2676067336050
NM_004273.5:c.501C>ALebanonchr10:72007532Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48171C>G; NM_004273.5:c.501C>A; NP_004264.2:p.His167Gln760637097
NM_004273.5:c.533_534insGLebanonchr10:72007564-72007565PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48203_48204insG; NM_004273.5:c.533_534insG; NP_004264.2:p.Ala179ArgfsX140
NM_004273.5:c.603C>ALebanonchr10:72007634PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48273C>A; NM_004273.5:c.603C>A; NP_004264.2:p.Tyr201Ter1219086196046
NM_004273.5:c.617_618TC>GALebanonchr10:72007648-72007649PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48287_48288TC>GA; NM_004273.5:c.617_618TC>GA; NP_004264.2:p.Phe206Ter
NM_004273.5:c.620T>GLebanonchr10:72007651Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48290T>G; NM_004273.5:c.620T>G; NP_004264.2:p.Ile207Ser
NM_004273.5:c.661C>TLebanonchr10:72007692Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48331C>T; NM_004273.5:c.661C>T; NP_004264.2:p.Arg221Cys746848315
NM_004273.5:c.664C>TLebanonchr10:72007695PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48334C>T; NM_004273.5:c.664C>T; NP_004264.2:p.Arg222Trp1219086176043
NM_004273.5:c.675C>ALebanonchr10:72007706Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48345C>A; NM_004273.5:c.675C>A; NP_004264.2:p.Ser225Arg771098871
NM_004273.5:c.718A>TLebanonchr10:72007749Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48388A>T; NM_004273.5:c.718A>T; NP_004264.2:p.Lys240Ter
NM_004273.5:c.758G>ALebanonchr10:72007789Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48428G>A; NM_004273.5:c.758G>A; NP_004264.2:p.Gly253Asp1564532372
NM_004273.5:c.776T>CLebanonchr10:72007807PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48446T>C; NM_004273.5:c.776T>C; NP_004264.2:p.Leu259Pro1219086166041
NM_004273.5:c.791G>ALebanonchr10:72007822Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48461G>A; NM_004273.5:c.791G>A; NP_004264.2:p.Cys264Tyr942951728
NM_004273.5:c.911G>AOmanchr10:72007942PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48581G>A; NM_004273.5:c.911G>A; NP_004264.2:p.Arg304Gln289375936040
NM_004273.5:c.920T>CLebanonchr10:72007951PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48590T>C; NM_004273.5:c.920T>C; NP_004264.2:p.Leu307Pro1219086186044
NM_004273.5:c.928C>TLebanonchr10:72007959Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48598C>T; NM_004273.5:c.928C>T; NP_004264.2:p.Arg310Cys1215036898
NM_004273.5:c.988C>TLebanonchr10:72008019PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNG_012635.1:g.48658C>T; NM_004273.5:c.988C>T; NP_004264.2:p.Gln330Ter2676067326051
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