DISEASES

Disease-gene associations mined from literature

Literature associating TMEM38A and autosomal dominant Emery-Dreifuss muscular dystrophy 4

TMEM38A [ENSP00000187762]

Trimeric intracellular cation channel type A; Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.

Synonyms:  TMEM38A,  TMEM38Ap,  hTMEM38A,  Q9H6F2,  TMEM38A-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM