COL2A1 polyclonal antibody
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Specification
Product Description
Rabbit polyclonal antibody raised against synthetic peptide of COL2A1.
Immunogen
A synthetic peptide (conjugated with KLH) corresponding to C-terminus of human COL2A1.
Host
Rabbit
Reactivity
Human
Form
Liquid
Purification
Protein A purification
Recommend Usage
Western Blot (1:1000)
The optimal working dilution should be determined by the end user.Storage Buffer
In PBS (0.09% sodium azide)
Storage Instruction
Store at 4°C. For long term storage store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Western Blot (Cell lysate)
Western blot analysis of COL2A1 polyclonal antibody (Cat # PAB3065) in 293 cell line lysates (35 ug/lane). COL2A1 (arrow) was detected using the purified polyclonal antibody. -
Gene Info — COL2A1
Entrez GeneID
1280Protein Accession#
NP_001835;P02458Gene Name
COL2A1
Gene Alias
ANFH, AOM, COL11A3, MGC131516, SEDC
Gene Description
collagen, type II, alpha 1
Gene Ontology
HyperlinkGene Summary
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq
Other Designations
OTTHUMP00000195063|cartilage collagen|chondrocalcin|collagen II, alpha-1 polypeptide
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Interactome
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Pathway
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Disease
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Publication Reference
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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
McAlinden A, Majava M, Bishop PN, Perveen R, Black GC, Pierpont ME, Ala-Kokko L, Mannikko M.
Human Mutation 2008 Jan; 29(1):83.
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Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.
Clinical Genetics 2008 Mar; 73(3):262.
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A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F.
American Journal of Medical Genetics. Part A 2007 Dec; 143A(23):2815.
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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
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