Methylenetetrahydrofolate Dehydrogenase 1-Like, NADP(+)-Dependent

Alternative Names

  • MTHFD1L
  • Mitochondrial C1-Tetrahydrofolate Synthase
  • MTC1THFS
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OMIM Number

611427

NCBI Gene ID

25902

Uniprot ID

Q6UB35

Length

236,204 bases

No. of Exons

42

No. of isoforms

2

Protein Name

Monofunctional C1-tetrahydrofolate synthase, mitochondrial

Molecular Mass

105790 Da

Amino Acid Count

978

Genomic Location

chr6:150,865,683-151,101,886

Gene Map Locus
6q25.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001242767.1:c.1260-4955G>ALebanonNC_000006.12:g.150931849G>AProtectiveMyocardial Infarction, Susceptibility to, 1NG_029185.1:g.71171G>A; NM_001242767.1:c.1260-4955G>A6922269
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