DISEASES

Disease-gene associations mined from literature

Literature on SAMM50

SAMM50 [ENSP00000345445]

Sorting and assembly machinery component 50 homolog; Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes. Required for the assembly of TOMM40 into the TOM complex.

Synonyms:  SAMM50,  SAMM50p,  hSAMM50,  A8MZI2,  Q9Y512 ...

Linkouts:  STRING  Pharos  UniProt  OMIM