Literature summary for 3.4.24.B19 extracted from

Sprenger, H.; Wani, G.; Hesseling, A.; Koenig, T.; Patron, M.; MacVicar, T.; Ahola, S.; Wai, T.; Barth, E.; Rugarli, E.; Bergami, M.; Langer, T.
Loss of the mitochondrial i-AAA protease YME1L leads to ocular dysfunction and spinal axonopathy (2019), EMBO Mol. Med., 11, e9288 .

Search for more literature for 3.4.24.B19

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Mus musculus	5739	-

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	O88967	-	-

Synonyms

Synonyms	Comment	Organism
Yme1L	-	Mus musculus

General Information

General Information	Comment	Organism
physiological function	mice lacking YME1L in the nervous system manifest ocular dysfunction with microphthalmia and cataracts and develop deficiencies in locomotor activity due to specific degeneration of spinal cord axons. Mitochondrial fragmentation occurs throughout the nervous system and does not correlate with the degenerative phenotype. Deletion of metalloprotease Oma1 restores tubular mitochondria but deteriorates axonal degeneration in the absence of YME1L	Mus musculus
physiological function	YME1L-deficient mice manifest ocular dysfunction with microphthalmia and cataracts and develop deficiencies in locomotor activity due to specific degeneration of spinal cord axons, which relay proprioceptive signals from the hind limbs to the cerebellum. Mitochondrial fragmentation occurs throughout the nervous system and does not correlate with the degenerative phenotype. Deletion of metalloendopeptidase Oma1 restores tubular mitochondria but deteriorates axonal degeneration in the absence of YME1L	Mus musculus

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Release 2023.1 (January 2023)