MTHFR

[edit] Synopsis

Methylenetetrahydrofolate reductase (OMIM:607093) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. MTHFR deficiency may lead to homocystinuria (OMIM:236250).

[edit] Association study

Xu J et al., 2010 conducted a case-control study of congenital cardiac disease by genotyping MTHFR c.1793G>A in a Chinese population consisting of 1033 congenital cardiac disease patients and 1067 non-congenital cardiac disease patients. The variant genotypes of MTHFR c.1793GA/AA were associated with a significantly decreased risk of congenital cardiac disease in two stages combined. In comparison with wild-type homozygote c.1793GG, the effect was significant in isolated perimembranous ventricular septal defect patients.

External references for MTHFR

• ensembl: ENSG00000177000
• OMIM: 607093
• Search miRBase for MTHFR
• Expression patterns from 4DXPress: MTHFR
• MGI: MGI:106639
• ZFIN:
• Wikipedia: MTHFR
• Search Wikiproteins: MTHFR
• Search Genetic Association Database: MTHFR
• Search GeneTests: MTHFR
• CHeartED:

Known phenotypes for MTHFR

Non-syndromic

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Syndromic

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Protein interaction partners

Patients reports for MTHFR

Translocations

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Mutations in MTHFR

Representation of protein MTHFR

Heart expression domain of MTHFR

No specified expression domain for MTHFR

Add a new domain where gene MTHFR is expressed

Associated CHDs found by automated text mining

AGeneApart Method

• Patent arterial duct (PDA) (09.27.21) (sig = 0.652)

• Patent foramen ovale (PFO) (05.03.01) (sig = 0.195)

Huge Navigator (Genopedia)

See complete results on Genopedia (including non CHD)

Heart defects

• abnorm congen

• abnorm drug ind

• absence of brain congen

• Aortic coarctation (09.29.01)

• cleft lip (physical finding)

• (palatoschisis) or (unspecified cleft palate) (disorder)

• club feet

• 21 trisomy

• Patent arterial duct (PDA) (09.27.21)

• 4-31 congenital anomalies of the heart

• ASD (05.04.01)

• VSD (07.10.00)

• meningomyelocele [disease/finding]

• abnorm mouth

• abnorm sex chromosome

• chromosome xo syndrome

• cleft spine

• Hypoplastic left heart syndrome (01.01.09)

• gastroschisis (disorder)

• congenital exomphalos (disorder)

This page contributors

• Jeroen Breckpot - CME Leuven (Belgium) (Free text)