and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene. The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family...
5 KB (581 words) - 15:36, 28 July 2024
Xp11.2 duplication (section IQSEC2)
to changes in the copy number of several genes including HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 and FAM120C. The HECT, UBA and WWE domain-containing...
27 KB (3,270 words) - 19:32, 7 November 2023
(CNVs) in adult patients with LGS or LGS-like epilepsy. Mutations in the IQSEC2 gene have been associated with this syndrome. This gene is located on the...
30 KB (3,431 words) - 12:09, 24 June 2024
Q13576 7762 IQGAP3 HGNC:20669 Q86VI3 7763 IQSEC1 HGNC:29112 Q6DN90 7764 IQSEC2 HGNC:29059 Q5JU85 7765 IQSEC3 HGNC:29193 Q9UPP2 7766 IQUB HGNC:21995 Q8NA54...
277 KB (17 words) - 15:46, 9 May 2024
are also several loci that have not been associated with a specific gene. IQSEC2: encodes an exchange factor for the Arf family of small GTP binding proteins...
18 KB (1,927 words) - 16:56, 28 July 2024
and micropenis; 610156; INPP5E Mental retardation, X-linked 1; 309530; IQSEC2 Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10 Mental...
234 KB (18,877 words) - 15:43, 9 May 2024