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FLASH GENE

Symbol

POLR1A

contributors: SGE/npt - updated : 21-06-2023

HGNC name	polymerase (RNA) 1 polypeptide A, 194kDa
HGNC id	17264

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AFD3 , NDCFL , ACCAL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function compromises rDNA transcription, one of the rate-limiting steps in the process of ribosome biogenesis constitutional germinal mutation       causes leukodystrophy, affecting protein homeostasis 4)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS