Collagen, type V, alpha 1 (redirect from COL5A1 (gene))
Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene. This gene encodes an alpha chain for one of the low abundance fibrillar...
8 KB (1,067 words) - 21:12, 21 November 2023
a regulatory fibril forming collagen. Collagen V is associated with the COL5A1 gene which is the gene which provides instructions to produce Collagen V...
8 KB (1,044 words) - 22:22, 12 August 2023
Most interstitial tissue, assoc. with type I, associated with placenta COL5A1, COL5A2, COL5A3 Ehlers–Danlos syndrome (classical) VI Most interstitial...
70 KB (7,740 words) - 11:00, 27 May 2024
occurs. The variation causing this type of EDS is in the genes COL5A2, COL5A1, and less frequently COL1A1. It involves the skin more than hEDS. In classical...
109 KB (11,320 words) - 06:15, 6 June 2024
syndrome 18 trisomy 1:5,000 Ehlers–Danlos syndrome COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE dominant 1:5,000 Emanuel syndrome...
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HGNC:2206 P53420 3355 COL4A5 HGNC:2207 P29400 3356 COL4A6 HGNC:2208 Q14031 3357 COL5A1 HGNC:2209 P20908 3358 COL5A2 HGNC:2210 P05997 3359 COL5A3 HGNC:14864 P25940...
277 KB (17 words) - 23:17, 27 April 2024
(CNTNAP1, CNTNAP2, CNTNAP3, CNTNAP3B, CNTNAP4, CNTNAP5), some collagens (COL5A1, COL5A3, COL9A1, COL11A1, COL11A2, COL12A1, COL14A1, COL15A1, COL16A1, COL18A1...
31 KB (3,428 words) - 03:17, 25 May 2024
These genes include BANP-ZNF469, COL4A4, FOXO1, FNDC3B, IMMP2L and RXRA-COL5A1. Others likely also exist. Patients with a parent, sibling, or child who...
65 KB (7,173 words) - 08:42, 27 May 2024
CDKN2B antisense RNA 1 or antisense non-coding RNA in the INK4 locus (ANRIL) COL5A1: collagen, type V, alpha 1 DDX31: DEAD box polypeptide 31 DENND1A: DENN...
26 KB (1,594 words) - 01:50, 11 April 2024
Eddy RL, Cheng W, Jani-Sait S, Shows TB (May 1992). "Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella...
10 KB (1,121 words) - 00:27, 16 December 2023
Higgins, J. V., & Greenspan, D. S. (1996). A translocation interrupt the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito....
20 KB (2,300 words) - 07:15, 4 February 2024
Wright A (2010). "New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8". Hum. Mol. Genet. 19 (21): 4304–11. doi:10.1093/hmg/ddq349...
5 KB (661 words) - 22:09, 28 November 2023
syndrome, type I; 130000; COL5A1 Ehlers–Danlos syndrome, type I; 130000; COL5A2 Ehlers–Danlos syndrome, type II; 130010; COL5A1 Ehlers–Danlos syndrome,...
234 KB (18,877 words) - 15:43, 9 May 2024
variant of Ehlers–Danlos syndrome COL4A5 Collagen type 4 Alport syndrome COL5A1 Collagen type 5 Classic variant of Ehlers–Danlos syndrome COL5A2 Collagen...
12 KB (108 words) - 02:46, 17 September 2022