PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene. PHF8 belongs to the family of ferrous iron and alpha-ketoglutarate-dependent...
8 KB (926 words) - 05:44, 22 July 2024
PHF8. The research found that PHF8 encodes for a histone lysine demethylase, and is involved in epigenetic regulation. The catalytic activity of PHF8...
93 KB (10,279 words) - 09:19, 20 May 2025
X-linked intellectual disability (OMIM: 300263) as caused by mutations in the PHF8 gene (OMIM: 300560). In the rarest of cases, abnormalities with the X or...
100 KB (10,962 words) - 20:10, 8 June 2025
disability and facial dysmorphism, caused by mutations in the histone demethylase PHF8 Simpson–Golabi–Behmel syndrome; coarse faces with protruding jaw and tongue...
15 KB (1,761 words) - 15:40, 28 March 2025
Sickle cell anemia 11p15 P Siderius X-linked intellectual disability syndrome PHF8 X-Linked Recessive Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive...
43 KB (995 words) - 23:45, 24 May 2025
is involved in the regulation of transcription and chromatin remodeling. PHF8: PHD finger protein 8 belongs to the family of ferrous iron and 2-oxoglutarate...
19 KB (2,017 words) - 15:19, 25 May 2025
number of several genes including HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 and FAM120C. The HECT, UBA and WWE domain-containing protein 1 (HUWE1) is...
27 KB (3,270 words) - 19:32, 7 November 2023
HGNC:18000 Q7RTV0 12060 PHF6 HGNC:18145 Q8IWS0 12061 PHF7 HGNC:18458 Q9BWX1 12062 PHF8 HGNC:20672 Q9UPP1 12063 PHF10 HGNC:18250 Q8WUB8 12064 PHF11 HGNC:17024 Q9UIL8...
282 KB (17 words) - 09:28, 10 February 2025
300354; CUL4B Mental retardation syndrome, X-linked, Siderius type; 300263; PHF8 Mental retardation, autosomal dominant 1; 156200; MBD5 Mental retardation...
234 KB (18,877 words) - 18:07, 24 March 2025