DISEASES

Disease-gene associations mined from literature

Literature associating TMEM79 and Kabuki syndrome

TMEM79 [ENSP00000384748]

Transmembrane protein 79; Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity).

Synonyms:  TMEM79,  TMEM79p,  hTMEM79,  Q5SZW9,  Q5SZX3 ...

Linkouts:  STRING  Pharos  UniProt