Gene |
Chromosome |
Location |
Syndrome |
ABCD4 | 14 | q24.3 | methylmalonic acidemia with homocystinuria | |
AMN | 14 | q32.32 | Imerslund-Grasbeck syndrome | |
CD320 | 19 | p13.2 | Methylmalonic aciduria - transient - due to transcobalamin receptor defect | |
CUBN | 10 | p13 | Imerslund-Grasbeck syndrome | |
GIF | 11 | q12.1 | Hereditary intrinsic factor deficiency | |
HCFC1 | 23 | q28 | methylmalonic acidemia with homocystinuria | |
LMBRD1 | 6 | q13 | methylmalonic acidemia with homocystinuria | |
MCEE | 2 | p13.3 | methylmalonic acidemia | |
MMAA | 4 | q31.21 | methylmalonic acidemia | |
MMAB | 12 | q24.11 | methylmalonic acidemia | |
MMACHC | 1 | p34.1 | methylmalonic acidemia with homocystinuria | |
MMADHC | 2 | q23.2 | methylmalonic acidemia with homocystinuria | |
MTR | 1 | q43 | Homocystinuria | |
MTRR | 5 | p15.31 | Homocystinuria | |
MUT | 6 | p12.3 | methylmalonic acidemia | |
NDUFB3 | 2 | q33.1 | Mitochondrial complex I deficiency | |
TCN2 | 22 | q12.2 | Transcobalamin deficiency | |