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- Table of Contents
Facts about Phosphomannomutase 2.
.
Human | |
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Gene Name: | PMM2 |
Uniprot: | O15305 |
Entrez: | 5373 |
Belongs to: |
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eukaryotic PMM family |
CDG1; CDG1a; CDGS; EC 5.4.2.8; phosphomannomutase 2; PMM 2
Mass (kDA):
28.082 kDA
Human | |
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Location: | 16p13.2 |
Sequence: | 16; NC_000016.10 (8797813..8849326) |
Cytoplasm.
PMID: 9140401 by Matthijs G., et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
PMID: 9425221 by Schollen E., et al. Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.