DISEASES

Disease-gene associations mined from literature

Literature on YME1L1

YME1L1 [ENSP00000318480]

ATP-dependent zinc metalloprotease YME1L1; ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region . Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (PubMed:18076378, PubMed:26923599, PubMed:27495975). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins . Required for normal, constitutive degradation of PRELID1 . Catalyzes the degradation of OMA1 in response to membrane depolarization . Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) . ECO:0000269|PubMed:26923599, ECO:0000269|PubMed:27495975,; In the N-terminal section; belongs to the AAA ATPase family.

Synonyms:  YME1L1,  YME1L1p,  hYME1L1,  Q5T8D1,  Q5T8D2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM