HGNC Approved Gene Symbol: PMM1
Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,576,900-41,589,840 (from NCBI)
Matthijs et al. (1997) cloned a cDNA encoding phosphomannomutase (EC 5.4.2.8), the human homolog of SEC53 or yeast phosphomannomutase from a liver cDNA library. The deduced 262-amino acid protein has a predicted molecular mass of 29 kD and shares 54% sequence identity with yeast phosphomannomutase. Expression of the human cDNA in Escherichia coli yielded an active phosphomannomutase that was purified to homogeneity. Northern blot analysis of human tissues showed strong expression in liver, heart, brain, and pancreas, and a lower expression in skeletal muscle.
Wada and Sakamoto (1997) cloned the PMM1 gene from a human placenta cDNA library.
See also PMM2 (601785).
By use of hybrid cell lines and fluorescence in situ hybridization, Matthijs et al. (1997) assigned the PMM1 gene to chromosome 22q13.
Wada and Sakamoto (1997) assigned the PMM1 gene to chromosome 22q13 by fluorescence in situ hybridization.
Matthijs, G., Schollen, E., Pirard, M., Budarf, M. L., Van Schaftingen, E., Cassiman, J.-J. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics 40: 41-47, 1997. [PubMed: 9070917] [Full Text: https://doi.org/10.1006/geno.1996.4536]
Wada, Y., Sakamoto, M. Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13. Genomics 39: 416-417, 1997. [PubMed: 9119384] [Full Text: https://doi.org/10.1006/geno.1996.4487]