Literature summary for 3.4.24.B18 extracted from

Martinelli, P.; La Mattina, V.; Bernacchia, A.; Magnoni, R.; Cerri, F.; Cox, G.; Quattrini, A.; Casari, G.; Rugarli, E.I.
Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration (2009), Hum. Mol. Genet., 18, 2001-2013.

Search for more literature for 3.4.24.B18

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Mus musculus	5739	-
mitochondrion	human mitochondria possess two m-AAA protease isoenzymes: a hetero-oligomeric complex, composed of paraplegin and AFG3L2 (Afg3 like 2), and a homo-oligomeric AFG3L2 complex. Genetic interaction between the m-AAA isoenzymes and suggest that different neuronal populations have variable thresholds of susceptibility to reduced levels of the m-AAA protease	Homo sapiens	5739	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	strong genetic interaction between Afg3l2 and Spg7 in adult neurons, indicating that both m-AAA protease isoenzymes are required to prevent degenerative changes. The m-AAA protease protects against cerebellar degeneration	?	-	?
additional information	Homo sapiens	strong genetic interaction between Afg3l2 and Spg7 in adult neurons, indicating that both m-AAA protease isoenzymes are required to prevent degenerative changes. The m-AAA protease protects against cerebellar degeneration. Loss of function of paraplegin (encoded by the SPG7 gene) causes hereditary spastic paraplegia, a disease characterized by retrograde degeneration of cortical motor axons	?	-	?
additional information	Mus musculus	strong genetic interaction between Afg3l2 and Spg7 in adult neurons, indicating that both m-AAA protease isoenzymes are required to prevent degenerative changes. The m-AAA protease protects against cerebellar degeneration. Spg72/2 mice show a late-onset degeneration of long spinal and peripheral axons with accumulation of abnormal mitochondria. m-AAA protease affects mt-DNA content and stability of the respiratory complexes	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9UQ90	-	-
Homo sapiens	Q9Y4W6	-	-
Mus musculus	Q3ULF4	-	-
Mus musculus	Q8JZQ2	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
cerebellar Purkinje cell	abnormal dysfunctional mitochondria in Purkinje cells of Spg7-/- Afg3l2Emv66/+ mice	Mus musculus	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	strong genetic interaction between Afg3l2 and Spg7 in adult neurons, indicating that both m-AAA protease isoenzymes are required to prevent degenerative changes. The m-AAA protease protects against cerebellar degeneration	Homo sapiens	?	-	?
additional information	strong genetic interaction between Afg3l2 and Spg7 in adult neurons, indicating that both m-AAA protease isoenzymes are required to prevent degenerative changes. The m-AAA protease protects against cerebellar degeneration. Loss of function of paraplegin (encoded by the SPG7 gene) causes hereditary spastic paraplegia, a disease characterized by retrograde degeneration of cortical motor axons	Homo sapiens	?	-	?
additional information	strong genetic interaction between Afg3l2 and Spg7 in adult neurons, indicating that both m-AAA protease isoenzymes are required to prevent degenerative changes. The m-AAA protease protects against cerebellar degeneration. Spg72/2 mice show a late-onset degeneration of long spinal and peripheral axons with accumulation of abnormal mitochondria. m-AAA protease affects mt-DNA content and stability of the respiratory complexes	Mus musculus	?	-	?

Synonyms

Synonyms	Comment	Organism
AFG3-like protein 2	-	Homo sapiens
AFG3-like protein 2	-	Mus musculus
AFG3L2	-	Homo sapiens
AFG3L2	-	Mus musculus
m-AAA protease	m-AAA protease comprises both heterooligomeric paraplegin-AFG3L2 and homo-oligomeric AFG3L2 isoenzymes	Homo sapiens
m-AAA protease	m-AAA protease comprises both heterooligomeric paraplegin-AFG3L2 and homo-oligomeric AFG3L2 isoenzymes	Mus musculus
paraplegin	-	Homo sapiens
paraplegin	-	Mus musculus
SPG7	-	Homo sapiens
SPG7	-	Mus musculus

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)