POLR3A
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value).
RNA polymerase III subunit A is an enzyme which is encoded by the gene POLR3A.[1]
Gene
[edit | edit source]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.[2]
Function
[edit | edit source]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.[3]
RNA polymerase III subunit A also detects foreign DNA and triggers an innate immune response.[4]
Clinical significance
[edit | edit source]Wiedemann–Rautenstrauch syndrome
[edit | edit source]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.[5]
4H leukodystrophy
[edit | edit source]4H leukodystrophy is a rare genetic disorder, which is characterised by hypogonadotropic hypogonadism, dental abnormalities, and hypomyelination.[6]
References
[edit | edit source]- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).