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POMK

protein O-mannose kinase
2 disorders 1 causative 1 untyped 8p11.21 gene with protein product
HGNC:26267MonarchNCBI Gene 84197ENSG00000185900UniProt Q9H5K3OMIM 615247

Aliases: FLJ23356, SgK196.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Autosomal Recessive Limb-Girdle Muscular Dystrophy causative
mechanism: Alpha-Dystroglycan Hypoglycosylation and Loss of Laminin Binding
subtype: POMK-LGMD
scoped to subtype: POMK-LGMD
Dystroglycanopathy untyped
Causative
mechanism: Defective alpha-dystroglycan O-mannosyl glycosylation
subtype: MDDG12 (POMK)
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.