AFG3L2

AFG3L2
Identifiers
Aliases	AFG3L2, SCA28, SPAX5, AFG3 like matrix AAA peptidase subunit 2, OPA12
External IDs	OMIM: 604581; MGI: 1916847; GeneCards: AFG3L2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LNA
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
Databases	NCBI: entry; OMA: entry
	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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000141385 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024527 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.
↑ Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, et al. (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLOS Genetics. 7 (10) e1002325. doi:10.1371/journal.pgen.1002325. PMC 3192828. PMID 22022284.

External links

Human AFG3L2 genome location and AFG3L2 gene details page in the UCSC Genome Browser.

Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, et al. (July 1999). "Identification and characterization of AFG3L2, a novel paraplegin-related gene". Genomics. 59 (1): 51–58. doi:10.1006/geno.1999.5818. PMID 10395799.
Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, et al. (January 2006). "SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2". Brain. 129 (Pt 1): 235–242. doi:10.1093/brain/awh651. PMID 16251216.
Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, et al. (2008). "Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis". Cerebellum. 7 (2): 184–188. doi:10.1007/s12311-008-0053-9. PMID 18769991. S2CID 8173189.
Augustin S, Gerdes F, Lee S, Tsai FT, Langer T, Tatsuta T (September 2009). "An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases". Molecular Cell. 35 (5): 574–585. doi:10.1016/j.molcel.2009.07.018. PMC 2744646. PMID 19748354.
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, et al. (April 2010). "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28". Nature Genetics. 42 (4): 313–321. doi:10.1038/ng.544. PMID 20208537. S2CID 1703983.
Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, et al. (August 2010). "Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation". European Journal of Human Genetics. 18 (8): 965–968. doi:10.1038/ejhg.2010.40. PMC 2987378. PMID 20354562.
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, et al. (October 2010). "Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias". Human Mutation. 31 (10): 1117–1124. doi:10.1002/humu.21342. PMID 20725928. S2CID 38251230.

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000141385 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024527 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.

[pmid22022284-6] Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, et al. (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLOS Genetics. 7 (10) e1002325. doi:10.1371/journal.pgen.1002325. PMC 3192828. PMID 22022284.

AFG3L2

References

External links

Further reading