DISEASES

Disease-gene associations mined from literature

Literature associating PHKA2 and Coffin-Lowry syndrome

PHKA2 [ENSP00000369274]

Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

Synonyms:  PHKA2,  PHKA2p,  hPHKA2,  P46019,  P46019p ...

Linkouts:  STRING  Pharos  UniProt  OMIM