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MTHFR is the rate-limiting enzyme in the methyl cycle, which includes the conversion of homocysteine into methionine. Defects in variants of MTHFR can therefore lead to hyperhomocysteinemia. [9] There are two common variants of MTHFR deficiency. In the more significant of the two, the individual is homozygous for the 677T polymorphism.
Some mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [6] [7] [8] Complex I deficiency with recessive spastic paraparesis has also been linked to MTHFR variants. In addition, the aberrant promoter hypermethylation of this gene is associated with male infertility and recurrent spontaneous abortion. [9] [10]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. [1] It has been related to schizophrenia [2] Alzheimer's disease [3] depression [4 ...
108156 Ensembl n/a ENSMUSG00000021048 UniProt P11586 Q922D8 RefSeq (mRNA) NM_005956 NM_001364837 NM_138745 RefSeq (protein) NP_005947 NP_001351766 NP_620084 Location (UCSC) n/a Chr 12: 76.3 – 76.37 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) is a gene located in humans on ...
Due to the commonality, severity and numerous issues associated with this polymorphism I strongly recommend this article be upgraded to Class A in order to educate patients and doctors and prevent or deminish chronic diseases or life threatening conditions. 73.164.150.93 07:13, 26 March 2015 (UTC) Traci
Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes , but both the alleles are defective.
(MTRR):r.1462_1557del96 – Associated with splicing of exon 11 due to a 7 base pair deletion. A large deletion of this mutant allele results in the absence of a c-terminus in the FAD binding domain. Pathogenicity associated with CblE type of homocystinuria. [21] (MTRR):c.1953-6_1953-2del5 – Novel mutation associated with CblE type of ...