POMK
| POMK | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | POMK, MDDGA12, SGK196, MDDGC12, protein-O-mannose kinase, protein O-mannose kinase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 615247; MGI: 1921903; HomoloGene: 12580; GeneCards: POMK; OMA:POMK - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein O-mannose kinase is an enzyme encoded by POMK gene.[5]
Gene
[edit]POMK is located on the short arm (p) of chromosome 8 on position 11.21, from base pair from base pair 43,093,498 to base pair 43,131,180.[6][7]
Function
[edit]This enzyme is located in the ER, and phosphorylates mannose on M3 core of dystroglycan.[8]
Clinical significance
[edit]Mutations in this gene can cause Limb-Girdle muscular dystrophy, Muscle-eye-brain disease and Walker-Warburg syndrome.[5]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000185900 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037251 – 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.
- 1 2 "Entry - *615247 - PROTEIN-O-MANNOSE KINASE; POMK - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.
- ↑ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.
- ↑ "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.
- ↑ Walimbe, Ameya S.; Okuma, Hidehiko; Joseph, Soumya; Yang, Tiandi; Yonekawa, Takahiro; Hord, Jeffrey M.; Venzke, David; Anderson, Mary E.; Torelli, Silvia (2020-09-25). "POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan". eLife. Retrieved 2026-07-27.