AFG3L2

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) is a protein that in humans is encoded by the AFG3L2 gene.[5]

AFG3L2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAFG3L2, SCA28, SPAX5, AFG3 like matrix AAA peptidase subunit 2, OPA12
External IDsOMIM: 604581 MGI: 1916847 HomoloGene: 4947 GeneCards: AFG3L2
Orthologs
SpeciesHumanMouse
Entrez

10939

69597

Ensembl

ENSG00000141385

ENSMUSG00000024527

UniProt

Q9Y4W6

Q8JZQ2

RefSeq (mRNA)

NM_006796

NM_027130

RefSeq (protein)

NP_006787

NP_081406

Location (UCSC)Chr 18: 12.33 – 12.38 MbChr 18: 67.54 – 67.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 [5] as well as spastic ataxia-neuropathy syndrome.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000141385 - Ensembl, May 2017
  2. 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.
  5. "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.
  6. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLoS Genet. 7 (10): e1002325. doi:10.1371/journal.pgen.1002325. PMC 3192828. PMID 22022284.

Further reading


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