Search results
Appearance
There is a page named "COL11A2 (gene)" on Wikipedia
- Collagen, type XI, alpha 2 (redirect from COL11A2 (gene))alpha-2(XI) chain is a protein that in humans is encoded by the COL11A2 gene. The COL11A2 gene produces one component of this type of collagen, called the...14 KB (1,919 words) - 21:13, 21 November 2023
- recessive congenital disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α2 strand...6 KB (685 words) - 21:29, 15 September 2023
- genes. As a result, regular appointments to a specialist ophthalmologist are advised. The type of Stickler syndrome associated with the COL11A2 gene does...11 KB (1,285 words) - 16:41, 5 August 2024
- II and XI. Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. The protein made by the COL11A2 gene is involved in the production...5 KB (554 words) - 05:51, 11 March 2023
- Chromosome 6 (category Genes on human chromosome 6)2) CDKAL1: CDK5 regulatory subunit associated protein 1 like 1 (6p22.3) COL11A2: collagen, type XI, alpha 2(6p21.3) CRIP3: encoding protein Cysteine rich...35 KB (2,420 words) - 20:16, 17 August 2024
- COL2A1 gene. Type XI collagen, on the other hand, is composed of three different alpha chains: the products of the COL2A1, COL11A1, and COL11A2 genes. Mutations...3 KB (413 words) - 05:18, 29 July 2022
- Tsumaki N, Myoui A, Yoshikawa H, Yang L, Eyre DR (Mar 2003). "COL11A2 collagen gene transcription is differentially regulated by EWS/ERG sarcoma fusion...19 KB (2,303 words) - 10:18, 13 May 2024
- cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular Stickler) and COL9A1 (recessive Stickler). The gene involved helps regulate how the body makes...4 KB (361 words) - 18:30, 29 June 2023
- flanking genetic markers MOG and COL11A2 (from 6p22.1 to 6p21.3 about 29Mb to 33Mb on the hg38 assembly), and contains 224 genes spanning 3.6 megabase pairs...57 KB (6,750 words) - 08:09, 11 August 2024
- and Sox6 are thought to induce the activation of the Col2a1 and the Col11a2 genes, and to repress the expression of Cbfa1, a marker for late stage Chondrocytes...10 KB (1,159 words) - 08:03, 29 May 2024
- insertion/deletion entirely inside one gene D – Deletion of a gene or genes Dup - Duplication of a gene or genes C – Whole chromosome extra, missing, or...42 KB (983 words) - 10:34, 21 August 2024
- "Statistics & download files". www.genenames.org. HUGO Gene Nomenclature Committee. 12 April 2024. Retrieved 12 April 2024....277 KB (17 words) - 23:17, 27 April 2024
- Nonsyndromic deafness (redirect from Genes related to nonsyndromic deafness)have been cloned. Mutations in the ACTG1, CABP2, CDH23, CLDN14, COCH, COL11A2, DFNA5, ESPN, EYA4, GJB2, GJB6, KCNQ4, MYO15A, MYO6, MYO7A, OTOF, PCDH15...20 KB (1,854 words) - 04:56, 8 August 2024
- Collagen, type XI, alpha 1 (redirect from COL11A1 (gene))IM, Gorman P, Lui VC, et al. (1990). "The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex...8 KB (1,082 words) - 22:53, 2 December 2023
- adolescent years. Knobloch syndrome – Caused by a mutation in the COL18A1 gene that codes for the production of collagen XVIII. Patients present with protrusion...70 KB (7,693 words) - 15:43, 20 July 2024
- CNTNAP3B, CNTNAP4, CNTNAP5), some collagens (COL5A1, COL5A3, COL9A1, COL11A1, COL11A2, COL12A1, COL14A1, COL15A1, COL16A1, COL18A1, COL19A1, COL20A1, COL21A1...31 KB (3,430 words) - 03:11, 4 July 2024
- affected parent. Prevalence of new gene mutations unknown Disease causing mutations in genes COL2A1, COL11A1, and COL11A2, but some families are not linked