DISEASES

Disease-gene associations mined from literature

Literature associating DNMT3A and carnitine palmitoyltransferase I deficiency

DNMT3A [ENSP00000264709]

DNA (cytosine-5-)-methyltransferase 3 alpha; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity; PWWP domain containing

Synonyms:  DNMT3A,  DNMT3Ap,  hDNMT3A,  F8WE91,  Q59HC6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM