Beta-1,3-Galactosyltransferase 6

Alternative Names

  • B3GALT6
  • UDP-Gal:Beta-Gal Beta-1,3-Galactosyltransferase, Polypeptide 6
  • Galactosyltransferase II
  • GALTII
  • Beta-3-GALT6
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OMIM Number

615291

NCBI Gene ID

126792

Uniprot ID

Q96L58

Length

2,805 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Beta-1,3-galactosyltransferase 6

Molecular Mass

37138 Da

Amino Acid Count

329

Genomic Location

chr1:1,232,237-1,235,041

Gene Map Locus
1p36.33

Description

The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_080605.4:c.530GCC[6]Saudi ArabiaNC_000001.11:g.1232808GCC[6]Likely PathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without FracturesNG_033265.1:g.5560GCC[6]; NM_080605.4:c.530GCC[6]1057034356
NM_080605.4:c.556T>CSaudi ArabiaNC_000001.11:g.1232834T>CPathogenicPathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures; Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2NG_033265.1:g.5586T>C; NM_080605.4:c.556T>C; NP_542172.2:p.Phe186Leu1553151294522415
NM_080605.4:c.618C>GPalestineNC_000001.11:g.1232896C>GPathogenicPathogenicAl-Gazali SyndromeNG_033265.1:g.5648C>G; NM_080605.4:c.618C>G; NP_542172.2:p.Cys206Trp763080896869985
NM_080605.4:c.845_846delinsTASudanNC_000001.11:g.1233123_1233124delinsTALikely PathogenicEhlers-Danlos Syndrome, Spondylodysplastic Type, 2NG_033265.1:g.5875_5876delinsTA; NM_080605.4:c.845_846delinsTA; NP_542172.2:p.Ser282Ile
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