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We identified eight novel variants in SLC19A1 (显示 SLC19A1 蛋白) and twelve novel variants in FOLR1 (显示 FOLR1 蛋白), FOLR2 (显示 FOLR2 蛋白), and FOLR3. Pathogenic variants include c.1265delG in SLC19A1 (显示 SLC19A1 蛋白) resulting in an early stop codon, four large insertion deletion variants in FOLR3, and a stop_gain variant in FOLR3
The rare alleles of specific single nucleotide polymorphisms within the FOLR1 (显示 FOLR1 蛋白), FOLR2 (显示 FOLR2 蛋白), and FOLR3 genes were statistically significant for association with meningomyelocele.
This gene encodes a member of the folate receptor (FOLR) family, members of which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene includes two polymorphic variants\\\\; the shorter one has two base deletion in the CDS, resulting in a truncated polypeptide, compared to the longer one. Both protein products are constitutively secreted in hematopoietic tissues and are potential serum marker for certain hematopoietic malignancies. The longer protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, respectively.
folate receptor gamma
, folate receptor 3 (gamma)