Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and sometimes MLL2 in humans and Mll4 in mice, is a major mammalian histone H3 lysine...
38 KB (3,946 words) - 12:08, 26 June 2024
two types of Kabuki syndrome. Type 1 is caused by pathogenic variants in KMT2D and Type 2 is caused by pathogenic variants in KDM6A. Specific symptoms...
33 KB (3,370 words) - 16:44, 31 July 2024
as a co-stimulatory factor for the activation of lymphoid cells); and 4) KMT2D (encodes histone-lysine N-methyltransferase 2D, a histone methyltransferase...
67 KB (7,967 words) - 20:38, 20 July 2024
FRAS1 FREM1 FREM2 FZD5 GDF3 GDF6 GJA1 GRIP1 HCCS HMGB3 HMX1 IGBP1 KAT6B KMT2D LRP2 MAB21L2 MAF MFRP NAA10 NDUFB11 NHS OTX2 PAX2 PAX6 PDE6D PIGL POLR1C...
25 KB (2,173 words) - 09:44, 18 March 2024
syndrome 147770 Juvenile myoclonic epilepsy 254770 Kabuki syndrome 147920 KMT2D, KDM6A Kallmann syndrome 308700 ANOS1 Lenz–Majewski hyperostotic dwarfism...
35 KB (2,499 words) - 18:40, 12 July 2024
HGNC:7132 Q03164 8314 KMT2B HGNC:15840 Q9UMN6 8315 KMT2C HGNC:13726 Q8NEZ4 8316 KMT2D HGNC:7133 O14686 8317 KMT2E HGNC:18541 Q8IZD2 8318 KMT5A HGNC:29489 Q9NQR1...
277 KB (17 words) - 15:46, 9 May 2024
KMT2A and KMT2D gene product proteins regulate gene transcription and may contribute to the development of various cancers (see KMT2A and KMT2D). And, the...
23 KB (2,718 words) - 08:48, 4 September 2023
risk factor together. Mutations in FGFR3, TP53, PIK3CA, KDM6A, ARID1A, KMT2D, HRAS, TERT, KRAS, CREBBP, RB1 and TSC1 genes may be associated with some...
132 KB (13,036 words) - 18:28, 10 August 2024
be regulated by the KMT2D transcription factor, a histone methyltransferase, due to a decrease in C19Orf81 expression when KMT2D is down regulated. The...
12 KB (1,156 words) - 21:04, 17 January 2024
pigmenti PDE6D AR Joubert syndrome 22 unknown AR Kapur–Toriello syndrome KMT2D AD Kabuki syndrome KDM6A XLD GDF6 AD Klippel–Feil syndrome types 1, 3 GDF3...
13 KB (538 words) - 09:46, 18 March 2024