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Invitrogen
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Immunogen sequence: MEENNLQCSS VVDGNFEEVP RETAIQFKPP LYRQRYQFVK NLVDQHEPKK VADLGCGDTS LLRLLKVNPC IELLVGV
Highest antigen sequence identity to the following orthologs: Mouse - 68%, Rat - 47%.
HENMT1 (HEN Methyltransferase 1) is a small RNA methyltransferase gene crucial for the stability and functionality of PIWI-interacting RNAs (piRNAs). It is located in human chromosome 1 at the p36.31 locus. The HENMT1 protein catalyzes the 2'-O-methylation at the 3' end of piRNAs in a Mg2+ dependent manner. This modification is essential for piRNA maturation and stability, ensuring the repression of transposable elements (TEs) during spermatogenesis and maintaining genomic integrity in male germ cells. Studies have highlighted the impact of HENMT1 mutations causing male infertility due to disrupted piRNA pathway and improper germ cell gene regulation. The enzymatic activity of HENMT1 is not only significant for male fertility but is also involved in maintaining piRNA stability in female germ cells, although females with HENMT1 mutations show subfertility.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: HEN1 methyltransferase homolog 1; hua enhancer 1 homolog 1; Small RNA 2'-O-methyltransferase
基因别名: C1orf59; HEN1; HENMT1
UniProt ID: (Human) Q5T8I9
Entrez Gene ID: (Human) 113802