Developmental Biology
Anti-EVC Antibody (CAB12634)
- SKU:
- CAB12634
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Developmental Biology
Description
| Antibody Name: | Anti-EVC Antibody |
| Antibody SKU: | CAB12634 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 743-992 of human EVC (NP_714928.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:1000 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 743-992 of human EVC (NP_714928.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | AIGQ ALLV HARN AATK SRAK DRDD FKRT LMEA AVES VYVT SAGV SRLV QAYY QQIG RIME DHEE RKLQ HLKT LQGE RMEN YKLR KKQE LSNP SSGS RTAG GAHE TSQA VHQR MLSQ QKRF LAQF PVHQ QMRL HAQQ QQAG VMDL LEAQ LETQ LQEA EQNF ISEL AALA RVPL AESK LLPA KRGL LEKP LRTK RKKP LPQE RGDL GVPN NEDL ASGD QTSG SLSS KRLS QQES EAGD SGNS KKML KRRS NL |
| Gene ID: | 2121 |
| Uniprot: | P57679 |
| Cellular Location: | Cell membrane, Cell projection, Cytoplasm, Single-pass membrane protein, cilium, cilium basal body, cilium membrane, cytoskeleton |
| Calculated MW: | 111kDa |
| Observed MW: | Refer to Figures |
| Synonyms: | EVC, DWF-1, EVC1, EVCL |
| Background: | This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. |
| UniProt Protein Function: | EVC: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development. Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC); also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD); also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. |
| UniProt Protein Details: | Protein type:Membrane protein, integral Chromosomal Location of Human Ortholog: 4p16.2 Cellular Component: cilium Biological Process: muscle development; positive regulation of smoothened signaling pathway; skeletal development Disease: Ellis-van Creveld Syndrome; Weyers Acrofacial Dysostosis |
| NCBI Summary: | This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P57679 |
| NCBI GenInfo Identifier: | 12229783 |
| NCBI Gene ID: | 2121 |
| NCBI Accession: | P57679.1 |
| UniProt Related Accession: | P57679 |
| Molecular Weight: | 112kDa |
| NCBI Full Name: | Ellis-van Creveld syndrome protein |
| NCBI Synonym Full Names: | EvC ciliary complex subunit 1 |
| NCBI Official Symbol: | EVC |
| NCBI Official Synonym Symbols: | EVC1; EVCL; DWF-1 |
| NCBI Protein Information: | ellis-van Creveld syndrome protein |
| UniProt Protein Name: | Ellis-van Creveld syndrome protein |
| UniProt Synonym Protein Names: | DWF-1 |
| Protein Family: | Ellis-van Creveld syndrome protein |
| UniProt Gene Name: | EVC |
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