MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
Gene ID: 25902, updated on 28-Oct-2024Gene type: protein coding
Also known as: FTHFSDC1; MTC1THFS; dJ292B18.2
- See all available tests in GTR for this gene
- Go to complete Gene record for MTHFD1L
- Go to Variation Viewer for MTHFD1L variants
Summary
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia. GeneReviews: Not available | |
| Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. GeneReviews: Not available | |
| Genomewide association analysis of coronary artery disease. GeneReviews: Not available |
Genomic context
- Location:
- 6q25.1
- Sequence:
- Chromosome: 6; NC_000006.12 (150865702..151101887)
- Total number of exons:
- 40
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MTHFD1L variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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