Name: Recombinant Human AFG3-like protein 2(AFG3L2),partial
Brand: CUSABIO
SKU: CSB-RP040044h

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
Target Protein Sequence	ERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEF 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.
Troubleshooting 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.

Target Background

Function	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	Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. PMID: 25251419 AOA2 with myoclonus associated with mutations in SETX and AFG3L2 PMID: 25927548 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 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 Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. PMID: 24293060 Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism. PMID: 24814845 Both full-length and truncated COX1 proteins physically interact with AFG3L2. PMID: 22252130 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 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 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 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 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 An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease AGG3L2. PMID: 19748354 Show More Hide All
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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Check Code：

Code	CSB-RP040044h
Size	$1812
Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human AFG3-like protein 2(AFG3L2),partial

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