AFG3L2

AFG3L2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LNA
Identifiers
Aliases	AFG3L2, SCA28, SPAX5, AFG3 like matrix AAA peptidase subunit 2, OPA12
External IDs	OMIM: 604581; MGI: 1916847; HomoloGene: 4947; GeneCards: AFG3L2; OMA:AFG3L2 - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	12,377,227 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	67,582,242 bp
RNA expression pattern
	Top expressed in
	Brodmann area 23; ; endothelial cell; ; jejunal mucosa; ; parietal pleura; ; Skeletal muscle tissue of biceps brachii; ; renal medulla; ; gingival epithelium; ; right ventricle; ; germinal epithelium; ; tibia;
	Top expressed in
	interventricular septum; ; muscle of thigh; ; right kidney; ; zygote; ; proximal tubule; ; myocardium of ventricle; ; secondary oocyte; ; gastrula; ; otic vesicle; ; skeletal muscle tissue;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; unfolded protein binding; zinc ion binding; metal ion binding; peptidase activity; protein binding; metalloendopeptidase activity; hydrolase activity; ATP binding; metallopeptidase activity;
Cellular component	integral component of membrane; membrane; mitochondrion; m-AAA complex; mitochondrial inner membrane;
Biological process	regulation of multicellular organism growth; mitochondrion organization; neuromuscular junction development; myelination; righting reflex; proteolysis; axonogenesis; calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; mitochondrial fusion; nerve development; mitochondrial protein processing; cristae formation; mitochondrial calcium ion transmembrane transport; protein processing; protein autoprocessing;
	Sources:Amigo / QuickGO
Orthologs
	10939
	69597
	ENSG00000141385
	ENSMUSG00000024527
	Q9Y4W6
	Q8JZQ2
	NM_006796
	NM_027130
	NP_006787
	NP_081406
	Wikidata
View/Edit Human	View/Edit Mouse

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) is a protein that in humans is encoded by the AFG3L2 gene.

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome.