RecName: Full=UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; - Protein

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Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus. [Transfus Med. 2019]
Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus.
Ricci Hagman J, Hult AK, Westman JS, Hosseini-Maaf B, Jongruamklang P, Saipin J, Bejrachandra S, Olsson ML. Transfus Med. 2019 Jun; 29(3):202-208. Epub 2018 Jun 6.
Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes. [J Biol Chem. 2015]
Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes.
Westman JS, Benktander J, Storry JR, Peyrard T, Hult AK, Hellberg Å, Teneberg S, Olsson ML. J Biol Chem. 2015 Jul 24; 290(30):18505-18. Epub 2015 Jun 8.
[A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene].
Lan X, Hong X, Xu X, Chen S, Ma K, Liu Y, He J, Zhu F, Lyu H. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun; 32(3):381-4.

RefSeq genomic sequence
See the genomic reference sequence for the B3GALNT1 gene (NG_007854.1).
RefSeq protein isoforms
See 56 reference sequence protein isoforms for the B3GALNT1 gene.

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O75752 [Domain Mapping of Disease Mut...]
O75752
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
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RecName: Full=UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Short=Bet...
RecName: Full=UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Short=Beta-1,3-GalNAc-T1; AltName: Full=Beta-1,3-galactosyltransferase 3; Short=Beta-1,3-GalTase 3; Short=Beta3Gal-T3; Short=Beta3GalT3; Short=b3Gal-T3; AltName: Full=Beta-3-Gx-T3; AltName: Full=Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase; AltName: Full=Globoside synthase; AltName: Full=UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase
gi|51315813|sp|O75752.1|B3GL1_HUMAN

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