Collagen XI alpha 2 Rabbit pAb
Collagen XI alpha 2 Rabbit pAb
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- 实验流程
- 背景知识
Application
| IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | P13942 |
| Reactivity | Human |
| Predicted | Rat, Pig, Mouse, Rabbit, Dog, Horse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 171791 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human Collagen XI alpha 2 |
| Epitope Specificity | 1631-1736/1736 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Secreted. extracellular space. extracellular matrix. |
| DISEASE | Defects in COL11A2 are the cause of Stickler syndrome type 3 (STL3) [MIM:184840]. STL3 is an autosomal dominant non-ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent in STL3. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. Defects in COL11A2 are the cause of autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]. OSMED is a skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of autosomal dominant skeletal disorders (Stickler and Marshall syndromes) but can be distinguished by disproportionately short limbs and lack of ocular involvement. Defects in COL11A2 are the cause of Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]. WZS is an autosomal dominant disorder allelic with STL3 and OSMED. WZS is also referred to as heterozygous OSMED. Defects in COL11A2 are the cause of deafness autosomal dominant type 13 (DFNA13) [MIM:601868]. DFNA13 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in COL11A2 are the cause of deafness autosomal recessive type 53 (DFNB53) [MIM:609706]. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. |
| Gene ID | 1302 |
|---|---|
| Other Names | Collagen alpha-2(XI) chain, COL11A2 |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
For Research Use Only. Not For Use In Diagnostic Procedures.
| Name | COL11A2 |
|---|---|
| Function | May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. |
| Cellular Location | Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793} |
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
REFERENCES
Vuoristo M.M.,et al.J. Biol. Chem. 270:22873-22881(1995).
Mungall A.J.,et al.Nature 425:805-811(2003).
Mural R.J.,et al.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
Lui V.C.,et al.Genomics 32:401-412(1996).
Zhidkova N.I.,et al.FEBS Lett. 326:25-28(1993).
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