Disease-gene associations mined from literature

Literature associating TMEM43 and autosomal dominant Emery-Dreifuss muscular dystrophy 7

TMEM43 [ENSP00000303992]

Transmembrane protein 43; May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity).

Synonyms:  TMEM43,  TMEM43p,  hTMEM43,  A0A024R2F9,  F8WDL3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM