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- Table of Contents
Facts about Mannose-1-phosphate guanyltransferase beta.
| Human | |
|---|---|
| Gene Name: | GMPPB |
| Uniprot: | Q9Y5P6 |
| Entrez: | 29925 |

| Belongs to: |
|---|
| transferase hexapeptide repeat family |

EC 2.7.7.13; GDP-mannose pyrophosphorylase BKIAA1851; GTP-mannose-1-phosphate guanylyltransferase beta; mannose-1-phosphate guanyltransferase beta; mannose-1-phosphate guanylyltransferase
Mass (kDA):
39.834 kDA

| Human | |
|---|---|
| Location: | 3p21.31 |
| Sequence: | 3; NC_000003.12 (49719916..49723974, complement) |
Cytoplasm.




PMID: 23768512 by Carss K.J., et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
PMID: 26310427 by Jensen B.S., et al. GMPPB-associated dystroglycanopathy: Emerging common variants with phenotype correlation.