Beta-1,3-Glucuronyltransferase 3

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OMIM Number

606374

NCBI Gene ID

26229

Uniprot ID

O94766

Length

6,691 bases

No. of Exons

6

No. of isoforms

2

Protein Name

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Molecular Mass

37122 Da

Amino Acid Count

335

Genomic Location

chr11:62,615,295-62,621,985

Gene Map Locus
11q12.3

Description

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012200.4:c.416=TunisiaNC_000011.10:g.62617189=Likely PathogenicMultiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart DefectsNG_031863.1:g.9987=; NM_012200.4:c.416=; NP_036332.2:p.Thr139=1327941900
NM_012200.4:c.830G>AUnited Arab EmiratesNC_000011.10:g.62616585C>TLikely Pathogenic, PathogenicPathogenicMultiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart DefectsNG_031863.1:g.10591G>A; NM_012200.4:c.830G>A; NP_036332.2:p.Arg277Gln38790693730573
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