POMK, protein O-mannosyl kinase, is a key enzyme, which phosphorylates the C6 position of O-mannose in the O-mannosyl trisaccharide (GalNAc-GlcNAc-Man-Ser/Thr) on a-dystroglycan (DAG1). POMK is also known as SGK196. Homozygous mutations in POMK gene cause congenital muscular dystrophies and knockout mice develop hydrocephalus.
Keyword:
O-mannose
, congenital muscular dystrophy
, dystroglycanopathy
, α-dystroglycan
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JCGG-STR033506
GlyTouCan:
G82715NG
GlyCosmos Glycans:
G82715NG
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JCGG-STR033507 |
| POMK Alias | |
| Designation | |
| Organism | Homo sapiens |
| GeneID | 84197 |
| HGNC | POMK (26267) |
| mRNA | NM_032237 |
| map | |
| Protein | NP_115613 |
| EC# | |
| CAZy | |
| GlyCosmos Glycogenes | POMK |
| OMIM | 615247 |
| GDGDB | |
| Human Protein Atlas | ENSG00000185900 |
