Details for Gene POLR3B

GENE NAME POLR3B
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000013503
UNIPROT ACCESSION NUMBER Q9NW08
GO MOLECULAR FUNCTION ["DNA-directed 5'-3' RNA polymerase activity", 'DNA binding', 'metal ion binding', 'ribonucleoside binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa03020; hsa04623; R-HSA-168249; R-HSA-168256; R-HSA-1834949; R-HSA-73780; R-HSA-73980; R-HSA-74158; R-HSA-74160; R-HSA-749476; R-HSA-76046; R-HSA-76061; R-HSA-76066; R-HSA-76071
2 combinations linked to POLR3B OLI1394; OLI1383
3 variants linked to POLR3B POLR3B:c.1244T>C, p.Met415Thr; POLR3B:c.2818-2A>T, ; POLR3B:c.2369T>G, p.Val790Gly
2 diseases linked to POLR3B Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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