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Sequence of this protein is as follows: MAASGKLSTC RLPPLPTIRE IIKLLRLQAA KQLSQNFLLD LRLTDKIVRK AGNLTNAYVY EVGPGPGGIT RSILNADVAE LLVVEKDTRF IPGLQMLSDA APGKLRIVHG DVLTFKVEKA FSESLKRPWE DDPPNVHIIG NLPFSVSTPL IIKWLENISC RDGPFVYGRT QMTLTFQKEV AERLAANTGS KQRSRLSVMA QYLCNVRHIF TIPGQAFVPK PEVDVGVVHF TPLIQPKIEQ PFKLVEKVVQ NVFQFRRKYC HRGLRMLFPE AQRLESTGRL LELADIDPTL RPRQLSISHF KSLCDVYRKM CDEDPQLFAY NFREELKRRK SKNEEKEEDD AENYRL
The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness.
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: Dimethyladenosine transferase 1, mitochondrial; h-mtTFB; h-mtTFB1; homolog of yeast mitochondrial transcription factor B; hTFB1M; Mitochondrial 12S rRNA dimethylase 1; mitochondrial dimethyladenosine transferase 1; Mitochondrial transcription factor B1; OTTHUMP00000017473; S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1
基因别名: CGI-75; CGI75; mtTFB; mtTFB1; TFB1M
UniProt ID: (Human) Q8WVM0
Entrez Gene ID: (Human) 51106
分子生物学功能:
RNA methyltransferase