DISEASES

Disease-gene associations mined from literature

Literature associating EXPH5 and epidermolysis bullosa simplex Dowling-Meara type

EXPH5 [ENSP00000265843]

Synaptotagmin-like protein homolog lacking C2 domains b; May act as Rab effector protein and play a role in vesicle trafficking.

Synonyms:  EXPH5,  EXPH5p,  hEXPH5,  E9PIT1,  E9PPH6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM