AFG3L2 ELISA Kit for Human(Homo sapiens) | EIAab.comAFG3L2 ELISA Kit for Human(Homo sapiens)

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AFG3L2 (Gene name),

AFG3-like protein 2 (Protein name ), AFG32_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

AFG3L2;

Protein name:

AFG3-like protein 2;

Alternative:

Paraplegin-like protein;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homooligomer.

Function:

ATP-dependent protease which is essential for axonal development.

Subcellular Location:

Mitochondrion membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

797

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

797:

AEKSTYEEFV | EGTGSLDEDT | SLPEGLKDWN | KEREKEKEEP | PGEKVAN

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

SMR:

Q9Y4W6

String:

Q9Y4W6

MIM:

604581

Pfam:

PF00004

STRING:

9606.ENSP00000269143

KEGG:

hsa:10939

UniGene:

Hs.726355

Uniprot:

Q9Y4W6

FOR

ELISA Kit for Human AFG3-like protein 2

CLIA Kit for Human AFG3-like protein 2

Polyclonal Antibody for Human AFG3-like protein 2

Monoclonal Antibody for Human AFG3-like protein 2

Protein for Human AFG3-like protein 2

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"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.
Genomics59:51-58(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];SUBCELLULAR LOCATION
2.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Eye.
3.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SPG7
4.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBUNIT
5.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
6.

"Northeast structural genomics consortium target HR6741A."
Northeast structural genomics consortium (NESG)
Submitted (2012-03) to the PDB data bank

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 164-251
7.

"Early 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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SCA28 LYS-700
8.

"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. , more...
Hum. Mutat.31:1117-1124(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SCA28 ILE-654; VAL-666; ARG-666; THR-666; ARG-671 AND GLU-671
9.

"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. , more...
Nat. Genet.42:313-321(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SCA28 THR-432; LYS-691; GLU-694 AND GLN-702;TISSUE SPECIFICITY
10.

"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. , more...
PLoS Genet.7:E1002325-E1002325(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SPAX5 CYS-616;CHARACTERIZATION OF VARIANT SPAX5 CYS-616

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