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POLR1A

RNA polymerase I subunit A
2 disorders 1 causative 1 untyped 2p11.2 gene with protein product
HGNC:17264MonarchNCBI Gene 25885ENSG00000068654UniProt O95602OMIM 616404

Aliases: DKFZP586M0122, FLJ21915, RPO1-4, RPA1, RPA190.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Acrofacial Dysostosis Cincinnati Type causative germline
mechanism: Heterozygous POLR1A Variants
Hypomyelinating Leukodystrophy 27 untyped
Causal biallelic variant
germline partial loss of function
mechanism: Biallelic Hypomorphic POLR1A Missense Variants
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.