AFG3L2 Antibody, Biotin conjugated

Code CSB-PA04005D0Rb
Size US$299
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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) AFG3L2 Polyclonal antibody
Uniprot No. Q9Y4W6
Target Names AFG3L2
Alternative Names AFG3 (ATPase family gene 3; yeast) like 2 antibody; AFG3 ATPase family gene 3 like 2 (yeast) antibody; AFG3 ATPase family gene 3 like 2 antibody; AFG3 like protein 2 antibody; AFG3-like protein 2 antibody; AFG32_HUMAN antibody; AFG3L2 antibody; ATPase family gene 3 like 2 antibody; ATPase family gene 3 yeast antibody; EC 3.4.24.- antibody; FLJ25993 antibody; Paraplegin like protein antibody; Paraplegin-like protein antibody; SCA28 antibody; Spinocerebellar ataxia 28 antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Recombinant Human AFG3-like protein 2 protein (550-759AA)
Immunogen Species Homo sapiens (Human)
Conjugate Biotin
Clonality Polyclonal
Isotype IgG
Purification Method >95%, Protein G purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form Liquid
Tested Applications ELISA
Protocols ELISA Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Data

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
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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