Genes involved in Folate Metabolism


S.no.Gene SymbolLocusExon CountFunctionHGNC IdChromosomeStartEndStrandENSEMBL IdPMID
1ABCB17q21.1232Folate transport4078713317987342639-1ENSG00000085563Williams.et.al
2ABCC116p13.134Folate transport511616043434162369301ENSG0000010322215041471
3ABCC210q2434Cellular export of natural folates53101015424631016116621ENSG0000002383920386493
4AHCY20q11.2217Adenosylhomocysteinase343203286807132891215-1ENSG0000010144421765920
5ALDH1L13q21.226Distribution of one carbon units39783125822404125900029-1ENSG0000014490821765920
6AMPD11p1316Purine biosynthesis DNA synthesis4681115215720115238239-1ENSG0000011674819902562
7AMT3p21.319Distribution of one carbon units glycine cleavage47334945421149460111-1ENSG0000014502021765920
8ATIC2q3517Purine biosynthesis - DNA synthesis79422161766792162144961ENSG0000013836321765920
9BHMT5q14.18Homocysteine remethylation1047578407604784281131ENSG0000014569221765920
10CBS21q22.324catalyse the formation of hydrogen sulfide1550214447330144496472-1ENSG0000016020017548676
11CD32019p13.3-p13.25Vitamin B12 cellular receptor166921983670118373240-1ENSG0000016777521765920
12CUBN10p1271Vitamin B12 intestinal receptor2548101686596517171816-1ENSG0000010761121765920
13DHFR5q14.16Folate homeostasis286157992204579950800-1ENSG0000022871621765920
14DMGDH5q14.118Distribution of one2447557829342978365449-1ENSG0000013283721765920
15DNMT119p13.241DNA methylation2976191024402210305755-1ENSG0000013081621765920
16DNMT3A2p2334DNA methylation297822545583025564784-1ENSG0000011977221765920
17DNMT3B20q11.224DNA methylation29792031350191313971621ENSG0000008830521765920
18FOLH111p11.221Folate hydrolysis (intestinal)3788114916818749230222-1ENSG0000008620521765920
19FOLR111q13.3-q14.17Cellular folate uptake37911171900602719073671ENSG0000011019521765920
20FPGS9q34.1117Folate homeostasis382491305651541305765561ENSG0000013687721765920
21FTCD21q22.316Provision of one-carbon units3974214755617647575481-1ENSG0000016028221765920
22GART21q22.1123Purine biosynthesis DNA synthesis4163213487623834914464-1ENSG0000026247321765920
23GGH8q12.310Folate hydrolysis (lysosomal)424886392763963951610-1ENSG0000013756321765920
24GIF11q12.19B12 absorbtion4268115959674659612974-1ENSG0000013481221765920
25GNMT6p126Glycine methylation4415642928500429316181ENSG0000012471321765920
26ITPA20p12Hydrolyzes non-canonical purine to their respective monophosphate derivatives617620319000632045161ENSG0000012587722838948
27MAT1A10q229Synthesis of SAM - methylation6903108203157682049434-1ENSG0000015122421765920
28MAT2A2p11.29Synthesis of SAM - methylation6904285766101857724031ENSG0000016890621765920
29MAT2B5q348Synthesis of SAM - methylation690551629325341629463591ENSG0000003827421765920
30MMAB12q2413B12 metabolism193313129149787129159022-1ENSG0000013942821765920
31MTFMT15q22.319Mitochondrial protein synthesis29666156529385065321977-1ENSG0000010370721765920
32MTHFD114q2428distribution of one carbon unit74321464854759649267251ENSG0000010071421765920
33MTHFD1L6q25.142distribution of one carbon unit2105561511868151514230231ENSG0000012025421765920
34MTHFD22p13.19distribution of one carbon unit7434274425690744424241ENSG0000006591121765920
35MTHFD2L4q13.326distribution of one carbon unit31865475023829751688141ENSG0000016373821765920
36MTHFR1p36.3135,10-Methylene-tetrahydrofolate reductase743611184578711866160-1ENSG0000017700021765920
37MTHFS15q24.34distribution of one carbon unit743718013588980189391-1ENSG0000013637121765920
38MTR1q4333Homocysteine remethylation3186512369585812370672811ENSG0000011698421765920
39MTRR5p15.3121Homocysteine remethylation74365786921779012351ENSG0000012427521765920
40SARDH9q33-q3426distribution of one carbon unit105369136528684136603479-1ENSG0000012345321765920
41SHMT117p11.214Provision of one-carbon units10850171823118718266856-1ENSG0000017697421765920
42SHMT212q12-q1414Provision of one-carbon units108521257623356576287181ENSG0000018219921765920
43SLC19A121q22.317Reduced folate carrier10937214693462946962385-1ENSG0000017363821765920
44SLC25A328q22.38Mitochondrial folate transporter298638104410866104427563-1ENSG0000016493321765920
45SLC46A117q11.26Proton coupled folate transporter30521172672166126733230-1ENSG0000026218621765920
46TCN111q11-q129B12 transport protein1162115962028159634041-1ENSG0000013482721765920
47TCN222q12.29B12 transport protein116532231003070310230471ENSG0000018533921765920
48TYMS18p11.31-p11.218Thymidylate biosynthesis12441186576046734991ENSG0000017689021765920