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- Table of Contents
Facts about Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2.
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Human | |
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Gene Name: | POMGNT2 |
Uniprot: | Q8NAT1 |
Entrez: | 84892 |
Belongs to: |
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glycosyltransferase 61 family |
Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
Mass (kDA):
66.615 kDA
Human | |
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Location: | 3p22.1 |
Sequence: | 3; NC_000003.12 (43079229..43106085, complement) |
Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas.
Endoplasmic reticulum membrane; Single-pass type II membrane protein.
PMID: 23929950 by Yoshida-Moriguchi T., et al. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
PMID: 22958903 by Manzini M.C., et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.