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Validated All-in-One™ qPCR Primer for COL11A1(NM_001854.4) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq].
Gene References into function
- A statistically significant difference has been found in COL11A1 expression between normal tissue and adenomas from a familial adenomatous polyposis patient, and all adenomas give evidence of an active adenomatous polyposis coli/beta-catenin pathway.
- sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.
- CBF/NF-Y proteins regulate the transcription of COL11A1 by directly binding to the ATTGG sequence in the proximal promoter region
- Six pedigrees with type 2 Stickler syndrome with mutations in COL11A1.
- Heterozygous COL11A1 mutations were found in 10 individuals with Stickler or Marshall syndromes.
- Type XI collagen is critical for intervertbral dis metabolism and its decrease is related to lumbar disc herniation.
- This study is the first to show that collagen XI is present in the Golgi apparatus of normal human colon goblet cells and localizes collagen XI in both normal and malignant tissue.