Homocystinuria（高胱氨酸尿症） |
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MTHFR, MTR, MTRR, 和 MMADHC 基因的表达产物在高半胱氨酸转化为甲硫氨酸的途径中起到辅助作用，这些基因突变也会导致本病的发生。
MMADHC编码产物将维生素B12转化成腺苷钴胺素或甲基钴胺素。腺苷钴胺素是甲基丙二酰辅酶A变位酶发挥功能的必需物质。已发现4种突变与高胱氨酸尿症有关。
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| MMADHC | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria | 2q23.2 | 8 | 约1437 bp |
| 基因摘要 | This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]. | |||