| PGM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | PGM3, AGM1, IMD23, PAGM, PGM 3, Phosphoglucomutase 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 172100 MGI: 97566 HomoloGene: 9205 GeneCards: PGM3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Phosphoacetylglucosamine mutase is an enzyme that in humans is encoded by the PGM3 gene.[5][6][7]
Clinical significance
Mutations in PGM3 are associated to congenital disorder of glycosylation.[8]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000013375 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056131 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Pang H, Koda Y, Soejima M, Kimura H (March 2002). "Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1)". Annals of Human Genetics. 66 (Pt 2): 139–44. doi:10.1046/j.1469-1809.2002.00103.x. PMID 12174217. S2CID 90947429.
- ↑ Li C, Rodriguez M, Banerjee D (January 2000). "Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein". Gene. 242 (1–2): 97–103. doi:10.1016/S0378-1119(99)00543-0. PMID 10721701.
- ↑ "Entrez Gene: PGM3 phosphoglucomutase 3".
- ↑ Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. (July 2014). "PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia". American Journal of Human Genetics. 95 (1): 96–107. doi:10.1016/j.ajhg.2014.05.007. PMC 4085583. PMID 24931394.
Further reading
- Chen SH, Anderson JE, Giblett ER, Stamatoyannopoulos G (1978). "Isozyme patterns in erythrocytes from human fetuses". American Journal of Hematology. 3: 23–8. doi:10.1002/ajh.2830030103. PMID 203189. S2CID 19875224.
- Yoshida H, Abe T, Nakamura F (1979). "Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots". Forensic Science International. 14 (1): 1–7. doi:10.1016/0379-0738(79)90150-6. PMID 468082.
- Marshall MJ, Neal FE, Goldberg DM (September 1979). "Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer". British Journal of Cancer. 40 (3): 380–90. doi:10.1038/bjc.1979.192. PMC 2010033. PMID 508567.
- Cantu JM, Ibarra B (May 1982). "Phosphoglucomutase: evidence for a new locus expressed in human milk". Science. 216 (4546): 639–40. Bibcode:1982Sci...216..639C. doi:10.1126/science.6461922. PMID 6461922.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Mio T, Yamada-Okabe T, Arisawa M, Yamada-Okabe H (July 2000). "Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1492 (2–3): 369–76. doi:10.1016/S0167-4781(00)00120-2. PMID 11004509.
External links
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