Phosphoglucomutase 3

PGM3
Identifiers
AliasesPGM3, AGM1, IMD23, PAGM, PGM 3, Phosphoglucomutase 3
External IDsOMIM: 172100; MGI: 97566; GeneCards: PGM3
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
5.4.2.3↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

5238

109785

Ensembl

ENSG00000013375

ENSMUSG00000056131

UniProt

O95394

Q9CYR6

RefSeq (mRNA)

NM_001163746
NM_028352

RefSeq (protein)

NP_001157218
NP_082628

Location (UCSC)Chr 6: 83.16 – 83.19 MbChr 9: 86.44 – 86.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000013375 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056131 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: PGM3 phosphoglucomutase 3".
  8. ^ 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

  • Overview of all the structural information available in the PDB for UniProt: Q9CYR6 (Mouse Phosphoacetylglucosamine mutase) at the PDBe-KB.
Stub icon

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by adding missing information.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.