Table 3 Known functions/pathways of a normal and pathological gene product of affected genes
Gene name | Known functions/pathways of normal and pathological gene products of affected genes that are potentially important for the HA phenotype in the studied family |
|---|---|
NT5C3A | Pyrimidine and purine metabolism (REACTOME, KEGG); catalyze the dephosphorylation of nucleoside 5′-monophosphates; mutations in this gene are a cause of hemolytic anemia due to uridine 5′-monophosphate hydrolase deficiency; An important paralog of this gene is NT5C3B; expression in erythroblasts and CD71++++ cells |
TYMP | Pyrimidine metabolism (REACTOME, KEGG); catalyzes the reversible phosphorolysis of thymidine; predicted interaction of TYMP and SCO2 genes products; expression in erythroblasts |
SCO2 | Pyrimidine deoxyribonucleoside degradation; predicted interaction of TYMP and SCO2 gene products; expression in erythroblasts |
PUDP | Pyrimidine metabolism (REACTOME, KEGG); dephosphorylates pseudouridine 5-phosphate, a potential intermediate in rRNA degradation, and pseudouridine is then excreted intact in urine; expression in erythroblasts |
HCFC1 | Host cell factor; diseases associated with HCFC1 include methylmalonic acidemia and homocysteinemia (inherited in an X-linked manner); expression in erythroblasts |
GEMIN8 | mRNA processing; expression in erythroblasts |
POLE | 2′-Deoxyribonucleoside-5′-triphosphate: DNA deoxynucleotidyltransferase; participates in DNA repair and chromosomal DNA replication; expression in erythroblasts |
XK | The kx blood-group antigen (kxa) family; diseases associated with XK include Mcleod neuroacanthocytosis syndrome and choreoacanthocytosis; expression in erythroblast and GPA++ |
RAD51C | Fanconi anemia group O, expression in erythroblasts and GPA++ cells |