DISEASES

Disease-gene associations mined from literature

Literature associating MIEF1 and optic nerve disease

MIEF1 [ENSP00000327124]

Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like; Mitochondrial outer membrane protein which regulates mitochondrial fission. 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 and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L; Belongs to the SMCR7 family.

Synonyms:  MIEF1,  MIEF1p,  hMIEF1,  A0A024R1L3,  B0QY94 ...

Linkouts:  STRING  Pharos  UniProt