POLR3A
From Wikipedia, the free encyclopedia
RNA polymerase III subunit A is an enzyme which is encoded by the gene POLR3A.[5]
| POLR3A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | POLR3A, ADDH, HLD7, RPC1, RPC155, hRPC155, polymerase (RNA) III subunit A, RNA polymerase III subunit A, WDRTS, C160 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614258; MGI: 2681836; HomoloGene: 5124; GeneCards: POLR3A; OMA:POLR3A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene
The POLR3A gene is located on the long arm (q) of chromosome 10 on position 22.3, from base pair from base pair 77,975,149 to base pair 78,029,515.[6]
Function
RNA polymerase III subunit A (this gene) along with subunit B (POLR3B) forms the catalytic core of RNA polymerase III. Together, these two subunits create the active center of the enzyme where RNA synthesis occurs.[7]
RNA polymerase III subunit A also detects foreign DNA and triggers an innate immune response.[8]
Clinical significance
Wiedemann–Rautenstrauch syndrome
Wiedemann–Rautenstrauch syndrome is a rare genetic disorder, which is characterised by prenatal and postnatal growth restriction, lipodystrophy, sparse hair, relatively large head, and a peculiar face. Intellectual disability is also common.[9]
4H leukodystrophy
4H leukodystrophy is a rare genetic disorder, which is characterised by hypogonadotropic hypogonadism, dental abnormalities, and hypomyelination.[10]