EVC ELISA Kit for Human(Homo sapiens) | EIAab.comEVC ELISA Kit for Human(Homo sapiens)

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Index > Protein center > EVC(Gene name) > Human

EVC (Gene name),

Ellis-van Creveld syndrome protein (Protein name ), EVC_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

EVC;

Protein name:

Ellis-van Creveld syndrome protein;

Alternative:

DWF-1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

N/A

Subcellular Location:

Membrane Single-pass membrane protein

Protein Attributes:

Sequence length:

992

Sequence:

50:

100:

150:

200:

250:

300:

350:

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450:

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992:

NEDLASGDQT | SGSLSSKRLS | QQESEAGDSG | NSKKMLKRRS | NL

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

STRING:

9606.ENSP00000264956

KEGG:

hsa:2121

MIM:

193530

UniGene:

Hs.646899

String:

P57679

Uniprot:

P57679

FOR

ELISA Kit for Human Ellis-van Creveld syndrome protein

CLIA Kit for Human Ellis-van Creveld syndrome protein

Polyclonal Antibody for Human Ellis-van Creveld syndrome protein

Monoclonal Antibody for Human Ellis-van Creveld syndrome protein

Protein for Human Ellis-van Creveld syndrome protein

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.

"Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis."
Ruiz-Perez V.L. , Ide S.E. , Strom T.M. , Lorenz B. , Wilson D. , Woods K. , King L. , Francomano C. , Freisinger P. , Spranger S. , Marino B. , Dallapiccola B. , Wright M. , Meitinger T. , Polymeropoulos M.H. , Goodship J.
Nat. Genet.24:283-286(2000) [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];VARIANT WAD PRO-307;VARIANT EVC GLN-443;VARIANTS PRO-74; HIS-258; SER-403; LYS-449; GLN-576; GLN-760 AND GLY-953
tissue: Brain.
tissue: Heart.
2.

Ruiz-Perez V.L. , Ide S.E. , Strom T.M. , Lorenz B. , Wilson D. , Woods K. , King L. , Francomano C. , Freisinger P. , Spranger S. , Marino B. , Dallapiccola B. , Wright M. , Meitinger T. , Polymeropoulos M.H. , Goodship J.
Nat. Genet.25:125-125(2000)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
3.

"Candidate gene for Ellis-van Creveld disorder."
Galdzicka M. , Damschroder-Williams P. , Hirshman H.G. , Winfield S.L. , Simmons A. , Lovett M. , Martin B.M. , Ginns E.I.
Submitted (2000-02) to the EMBL/GenBank/DDBJ databases

[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]
4.

"Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene."
Ulucan H. , Gul D. , Sapp J.C. , Cockerham J. , Johnston J.J. , Biesecker L.G.
BMC Med. Genet.9:92-92(2008) [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 EVC PRO-623
5.

"A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family."
Kalsoom U.-E. , Wasif N. , Tariq M. , Ahmad W.
Pediatr. Int.52:240-246(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 EVC ASN-206

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