YME1 like 1 ATPase
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Putative ATP-dependent protease. Plays a role in mitochondrial organization and mitochondrial protein metabolism, including degradation of PRELID1 and OPA1 (PubMed:18076378, 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 to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1).
From NCBI Gene:
- OPTIC ATROPHY 11
Defects in YME1L1 may cause a mitochondrial disorder characterized by infantile onset of intellectual disability, motor developmental delay, expressive speech delay, optic nerve atrophy associated with visual impairment, hearing impairment, but no facial dysmorphism. Lactate levels and lactate/pyruvate ratios are elevated in patients blood and/or cerebrospinal fluid. Muscle biopsy show mitochondria with altered cristae morphology and paracristalline inclusions.