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- Table of Contents
Facts about Protein O-mannosyl-transferase 1.
.
Human | |
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Gene Name: | POMT1 |
Uniprot: | Q9Y6A1 |
Entrez: | 10585 |
Belongs to: |
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glycosyltransferase 39 family |
Dolichyl-phosphate-mannose--protein mannosyltransferase 1; EC 2.4.1; EC 2.4.1.109; FLJ37239; LGMD2K; MDDGA1; MDDGB1; MDDGC1; protein O-mannosyl-transferase 1; protein-O-mannosyltransferase 1; RT
Mass (kDA):
84.881 kDA
Human | |
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Location: | 9q34.13 |
Sequence: | 9; NC_000009.12 (131502902..131523803) |
Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
Endoplasmic reticulum membrane; Multi-pass membrane protein.
PMID: 10366449 by Perez Jurado L.A., et al. Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
PMID: 12369018 by Beltran-Valero de Bernabe D., et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.