DISEASES

Disease-gene associations mined from literature

Literature associating MIEF2 and Smith-Magenis syndrome

MIEF2 [ENSP00000379057]

Mitochondrial dynamics protein MID49; Mitochondrial outer membrane protein which regulates mitochondrial organization . It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity. ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378,; Belongs to the MID49/MID51 family.

Synonyms:  MIEF2,  MIEF2p,  hMIEF2,  A8MT25,  J3KTJ4 ...

Linkouts:  STRING  Pharos  UniProt