该基因与wolf-hirschhorn综合征候选基因1相关,编码一个具有pwp(脯氨酸-色氨酸-色氨酸-脯氨酸)结构域的蛋白质。该蛋白在赖氨酸残基4和27处甲基化组蛋白H3,抑制基因转录。已经描述了两种可选的拼接变体。[由RefSeq提供,2015年5月]
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]
基因名: | NSD3 |
别名: | KMT3F,KMT3G,WHISTLE,WHSC1L1,pp14328 |
基因ID: | 54904 |
Chromosome: (GRCh37) | 8 Start: 38127217 End: 38239872 Strand: |
信号通路: |