extracellular matrix protein 2 is a protein that in humans is encoded by the EFEMP2 gene. A large number of extracellular matrix proteins have been found to...
7 KB (818 words) - 19:09, 1 August 2024
PMID 20301755. NBK5200. In GeneReviews Loeys B, De Paepe A, Urban Z (2011-05-12). EFEMP2-Related Cutis Laxa. University of Washington, Seattle. PMID 21563328. NBK54467...
12 KB (1,176 words) - 18:13, 12 July 2024
HGNC:29051 O75071 4752 EFCC1 HGNC:25692 Q9HA90 4753 EFEMP1 HGNC:3218 Q12805 4754 EFEMP2 HGNC:3219 O95967 4755 EFHB HGNC:26330 Q8N7U6 4756 EFHC1 HGNC:16406 Q5JVL4...
277 KB (17 words) - 23:17, 27 April 2024
Cdk1, CFLAR, CHEK1, CCNG1, CREBBP, CREB1, Cyclin H, CDK7, DNA-PKcs, E4F1, EFEMP2, EIF2AK2, ELL, EP300, ERCC6, GNL3, GPS2, GSK3B, HSP90AA1, HIF1A, HIPK1,...
124 KB (13,220 words) - 22:19, 22 August 2024
mutations in several different genes. These genes include ATP6V0A2, ATP7A, EFEMP2, ELN, and FBLN5. These genes are responsible for elastic fibers, specifically...
15 KB (1,320 words) - 07:25, 11 June 2024
recessive; 219100; FBLN5 Cutis laxa, autosomal recessive, type I; 219100; EFEMP2 Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2 Cutis laxa, autosomal...
234 KB (18,877 words) - 15:43, 9 May 2024