Recombinant Human AFG3-like protein 2(AFG3L2),partial

Code CSB-RP040044h
Size $1812
  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names AFG3L2
Uniprot No. Q9Y4W6
Research Area Metabolism
Alternative Names
AFG3 (ATPase family gene 3; yeast) like 2; AFG3 ATPase family gene 3 like 2 (yeast); AFG3 ATPase family gene 3 like 2; AFG3 like protein 2; AFG3-like protein 2; AFG32_HUMAN; AFG3L2; ATPase family gene 3 like 2; ATPase family gene 3 yeast; EC 3.4.24.-; FLJ25993; Paraplegin like protein; Paraplegin-like protein; SCA28; Spinocerebellar ataxia 28
Species Homo sapiens (Human)
Source E.coli
Expression Region 550-759aa
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 50.8kDa
Protein Length Partial
Tag Info N-terminal GST-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

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Target Background

ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Required for paraplegin (SPG7) maturation. After its cleavage by mitochondrial-processing peptidase (MPP), it converts paraplegin into a proteolytically active mature form. Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP). Involved in the regulation of OMA1-dependent processing of OPA1.
Gene References into Functions
  1. Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. PMID: 25251419
  2. AOA2 with myoclonus associated with mutations in SETX and AFG3L2 PMID: 25927548
  3. This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maintenance. PMID: 25420100
  4. StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin. PMID: 24422629
  5. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. PMID: 24293060
  6. Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism. PMID: 24814845
  7. Both full-length and truncated COX1 proteins physically interact with AFG3L2. PMID: 22252130
  8. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID: 22022284
  9. The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations. PMID: 21827917
  10. We further confirm both the involvement of AFG3L2 gene in Spinocerebellar ataxia type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16. PMID: 20725928
  11. in spinocerebellar ataxia type 28 patients study found novel missense mutation at an evolutionarily conserved amino-acid position; amino-acid exchange p.E700K was detected in a 4-generation family and was not observed in chromosomes of controls PMID: 20354562
  12. work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration. PMID: 20208537
  13. An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease AGG3L2. PMID: 19748354

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Involvement in disease Spinocerebellar ataxia 28 (SCA28); Spastic ataxia 5, autosomal recessive (SPAX5)
Subcellular Location Mitochondrion. Mitochondrion inner membrane; Multi-pass membrane protein.
Protein Families AAA ATPase family; Peptidase M41 family
Tissue Specificity Ubiquitous. Highly expressed in the cerebellar Purkinje cells.
Database Links

HGNC: 315

OMIM: 604581

KEGG: hsa:10939

STRING: 9606.ENSP00000269143

UniGene: Hs.726355

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