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Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4 (zeige EYA4 ELISA Kits)), DFNA8 (zeige TECTA ELISA Kits)/12 (TECTA (zeige TECTA ELISA Kits)), DFNA13 (COL11A2), DFNA44 (CCDC50 (zeige CCDC50 ELISA Kits)), have been reported to date. [review]
Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI (zeige COL11A1 ELISA Kits) COL11A2 protein.
Expanded spectrum of mutations in the COL11A1 (zeige COL11A1 ELISA Kits) and COL11A2 genes in Stickler syndrome.
A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome.
Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees.
These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2
The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 (zeige WNT3 ELISA Kits) and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified.
four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1 (zeige OR2H1 ELISA Kits), C6orf26-RDBP (zeige RDBP ELISA Kits) and HLA-DPB1-COL11A2.
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions
The expression patterns suggest essential roles for Col11a1 (zeige COL11A1 ELISA Kits) and Col11a2 in the basilar or tectorial membranes.
The present study has revealed a novel retinoic acid-response element in Col11a2 that does not interact directly with the promoter, but instead requires the D/E enhancer to mediate transcriptional activation.
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.
collagen, type XI, alpha 2
, collagen alpha-2(XI) chain-like
, bromodomain-containing protein 2
, collagen type XI alpha 2
, collagen alpha-2(XI) chain
, pro-a2 chain of collagen type XI
, procollagen, type XI, alpha 2
, type XI collagen alpha2 chain