AFG3-like protein 2 Recombinant Protein | AFG3L2 recombinant protein

Recombinant Human AFG3-like protein 2

Cat. Num. AAA116162

• Gene Names: AFG3L2; SCA28; SPAX5
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: AFG3-like protein 2; N/A; Recombinant Human AFG3-like protein 2; Paraplegin-like protein; AFG3L2 recombinant protein

• Host: E Coli
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Liquid containing glycerol
• Sequence Positions: 550-759aa; Partial
• Sequence: ERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEF
• Sequence Length: 797

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for AFG3L2 recombinant protein

ATP-dependent protease which is essential for axonal development.

Product Categories/Family for AFG3L2 recombinant protein

Metabolism

References

Identification and characterization of AFG3L2, a novel paraplegin-related gene.Banfi S., Bassi M.T., Andolfi G., Marchitiello A., Zanotta S., Ballabio A., Casari G., Franco B.Genomics 59:51-58(1999) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.Atorino L., Silvestri L., Koppen M., Cassina L., Ballabio A., Marconi R., Langer T., Casari G.J. Cell Biol. 163:777-787(2003) Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.Koppen M., Metodiev M.D., Casari G., Rugarli E.I., Langer T.Mol. Cell. Biol. 27:758-767(2007) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.J. Proteomics 96:253-262(2014) Northeast structural genomics consortium target HR6741A.Northeast structural genomics consortium (NESG) Submitted (MAR-2012) to the PDB data bankEarly onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.Edener U., Wollner J., Hehr U., Kohl Z., Schilling S., Kreuz F., Bauer P., Bernard V., Gillessen-Kaesbach G., Zuhlke C.Eur. J. Hum. Genet. 18:965-968(2010) Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias.Cagnoli C., Stevanin G., Brussino A., Barberis M., Mancini C., Margolis R.L., Holmes S.E., Nobili M., Forlani S., Padovan S., Pappi P., Zaros C., Leber I., Ribai P., Pugliese L., Assalto C., Brice A., Migone N., Durr A., Brusco A.Hum. Mutat. 31:1117-1124(2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.Di Bella D., Lazzaro F., Brusco A., Plumari M., Battaglia G., Pastore A., Finardi A., Cagnoli C., Tempia F., Frontali M., Veneziano L., Sacco T., Boda E., Brussino A., Bonn F., Castellotti B., Baratta S., Mariotti C., Gellera C., Fracasso V., Magri S., Langer T., Plevani P., Di Donato S., Muzi-Falconi M., Taroni F.Nat. Genet. 42:313-321(2010) Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.Pierson T.M., Adams D., Bonn F., Martinelli P., Cherukuri P.F., Teer J.K., Hansen N.F., Cruz P., Mullikin J.C., Blakesley R.W., Golas G., Kwan J., Sandler A., Fuentes Fajardo K., Markello T., Tifft C., Blackstone C., Rugarli E.I., Langer T., Gahl W.A., Toro C.PLoS Genet. 7:E1002325-E1002325(2011)

NCBI and Uniprot Product Information

• NCBI GI #: 300192933
• NCBI GeneID: 10939
• NCBI Accession #: NP_006787.2
• NCBI GenBank Nucleotide #: NM_006796.2
• UniProt Accession #: Q9Y4W6; Q6P1L0
• Molecular Weight: 50.8 kDa
• NCBI Official Full Name: AFG3-like protein 2
• NCBI Official Synonym Full Names: AFG3-like AAA ATPase 2
• NCBI Official Symbol: AFG3L2
• NCBI Official Synonym Symbols: SCA28; SPAX5
• NCBI Protein Information: AFG3-like protein 2
• UniProt Protein Name: AFG3-like protein 2
• UniProt Gene Name: AFG3L2
• UniProt Entry Name: AFG32_HUMAN