Genes involved in Cobalamin Metabolism


S.no. Gene Symbol Function HGNC ID Locus Exon Count Chromosome Start End Strand ENSEMBL Id PMID
1 CUBN Receptor for intrinsic factor-vitamin B12 complexes. 2548 10p13 71 10 16864965 17171816 -1 ENSG00000107611 24533076 / 23402911
2 FUT2 It involved in the creation of a precursor of the H antigen 4013 19q13.33 2 19 49198228 49209191 1 ENSG00000176920 24533076
3 TCN1 Member of the vitamin B12-binding protein family 11652 11q12.1 9 11 59619281 59634041 -1 ENSG00000134827 24533076
4 MMADHC Encodes a mitochondrial protein -an early step of vitamin B12 metabolism. 25221 2q23.2 8 2 150425147 150444330 -1 ENSG00000168288 18385497
5 MMAA Involved in the translocation of cobalamin into the mitochondrion-the final steps of adenosylcobala 18871 4q31.21 8 4 146539540 146581187 1 ENSG00000151611 21114891
6 MMACHC Binding and intracellular trafficking of cobalamin. 24525 1p34.1 4 1 45964856 45976739 1 ENSG00000132763 21114891
7 MMAB Catalyzes the conversion of vitamin B12 into adenosylcobalamin, a vitamin B12-containing coenzyme fo 19331 12q24.11 13 12 109990521 110011358 -1 ENSG00000139428 21114891
8 MTRR Regenerates a functional methionine synthase via reductive methylation with the protein. 7473 5p15.31 21 5 7868217 7901235 1 ENSG00000124275 21114891
9 MUT Encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. 7526 6p12.3 13 6 49397073 49431041 -1 ENSG00000146085 21114891
10 MTR Encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase and catalyzes the final step in 7468 1q43 33 1 236957581 237067281 1 ENSG00000116984 21114891
11 LMBRD1 Involved in the transport and metabolism of cobalamin. 23038 6q13 17 6 70384641 70506534 -1 ENSG00000168216 21114891
12 GIF Required for the adequate absorption of vitamin B12. 4268 11q12.1 9 11 59595746 59612974 -1 ENSG00000134812 21114891
13 ABCD4 Transport various molecules across extra- and intra-cellular membranes 68 14q24.3 20 14 74750980 74769767 -1 ENSG00000119688 22922874
14 TCN2 B12 transport protein 11653 22q12.2 9 22 31003070 31023047 1 ENSG00000185339 29445423
15 CPS1 Carbamoyl-phosphate synthase 1 2323 2q34 43 2 211342406 211543831 1 ENSG00000021826 29445423
16 SPACA1 Sperm Acrosome Associated 1 14967 6q15 8 6 88757507 88776550 1 ENSG00000118434 29445423
17 PON1 Paraoxonase 1 9204 7q21.3 9 7 94926988 95025673 -1 ENSG00000005421 29445423
18 ZBTB10 Zinc finger and BTB domain containing 10 30953 8q21.13 8 8 81397854 81438500 1 ENSG00000205189 29445423
19 TRDMT1 TRNA Aspartic Acid Methyltransferase 1 2977 10p13 15 10 17184253 17244070 -1 ENSG00000107614 29445423
20 MS4A3 Membrane Spanning 4-Domains A3 7317 11q12.1 8 11 59824060 59838601 1 ENSG00000149516 29445423
21 CLYBL Citrate Lyase Beta Like 18355 13q32.3 11 13 100258919 100549388 1 ENSG00000125246 29445423
22 ACTL9 Actin Like 9 28494 19p13.2 1 19 8807751 8809172 -1 ENSG00000181786 29445423
23 TCBLR CD320 Molecule 16692 19p13.2 5 19 8367011 8373240 -1 ENSG00000167775 29445423