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Catalog Number: |
27451 |
other_names: | COL11A2; DFNA13; DFNB53; FBCG2; HKE5; PARP; STL3; collagen alpha-2(XI) chain |
Amount: |
100μg |
calculated_mw: | 150kDa |
host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#:P13942 |
Form of Antibody: |
Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4. |
Storage/Stability: |
|
Immunogen: |
Recombinant fusion protein of human COL11A2 (NP_542411.2). |
Purification: |
Affinity purification |
Specificity/Sensitivity: |
|
Applications: |
WB |
Background: |
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. |
References: |
|
appl_detail: |
WB 1:500 - 1:2000 |
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