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- Table of Contents
Facts about Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1.
Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. .
Human | |
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Gene Name: | POMGNT1 |
Uniprot: | Q8WZA1 |
Entrez: | 55624 |
Belongs to: |
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glycosyltransferase 13 family |
DKFZp761B182; EC 2.4.1; EC 2.4.1.-; EC 2.4.1.101; FLJ20277; GnT I.2; MDDGA3; MDDGB3; MDDGC3; MEB; MGAT1.2; MGAT1.2GNTI.2; POMGNT1; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase; protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
Mass (kDA):
75.252 kDA
Human | |
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Location: | 1p34.1 |
Sequence: | 1; NC_000001.11 (46188681..46220305, complement) |
Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.
Golgi apparatus membrane; Single-pass type II membrane protein.
PMID: 11709191 by Yoshida A., et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
PMID: 12588800 by Taniguchi K., et al. Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease.