Search by BoMiProt ID - Bomi3764

Primary Information

BoMiProt ID Bomi3764
Protein Name AFG3-like protein 2
Organism Bos taurus
Uniprot IDQ2KJI7
Milk FractionWhey
Ref Sequence ID NP_001039676.1
Aminoacid Length 805
Molecular Weight 89388
FASTA Sequence Download
Gene Name AFG3L2
Gene ID 515757
Protein Existence Status reviewed

Secondary Information

Protein Function ATP-dependent protease ,essential for axonal and neuron development,mitochondrial ribosome assembly.
Biochemical Properties  a subunit of the mitochondrial m-AAA protease
PTMs Proteolytic cleavage
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Predicted Disorder Regions 75-123, 420-424, 754-805
DisProt Annotation
TM Helix Prediction 2TMHs; (146-164),(254-272)
Significance of PTMs After entry into the mitochondria, the N-terminal transit peptide is cleaved to generate an intermediate form which undergoes autocatalytic proteolytic cleavage to generate active mature form.
Additional Comments Mutations in the AFG3L2 gene have been linked to spinocerebellar ataxia type 28 and spastic ataxia-neuropathy syndrome in humans. In knockout of Afg3l2,studies have revealed a decreased rate of mitochondrial protein synthesis associated with impaired mitochondrial ribosome assembly
Bibliography Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI. AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8. PMID: 23041622; PMCID: PMC3484458.