The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
人 MTHFS (NM_001199758) cDNA克隆
| Accession: | NM_001199758 |
|---|---|
| 基因名称: | MTHFS |
| 基因别名: | HsT19268 |
| 基因描述: | Homo sapiens 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) (MTHFS), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 441 (查看编码区序列) |
| 翻译后氨基酸长度: | 146 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. |
| 人 MTHFS (NM_006441) cDNA克隆 | transcript variant 1 |
| 人 MTHFS (NM_001199758) cDNA克隆 | transcript variant 2 |
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