Search for a gene
POLR3A - RNA polymerase III subunit A
- Synonym(s) : C160, hRPC155, RPC1, RPC155
- Previous symbols and names : polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
- Type : gene with protein product
- Chromosomal location : 10q22.3
- OMIM: 614258
- HGNC: 30074
- UniProtKB: O14802
- Genatlas: POLR3A
- GenCC: POLR3A
- Ensembl: ENSG00000148606
- IUPHAR-DB: -
- Reactome: O14802
- LOVD: POLR3A
Diseases list
- Disease-causing germline mutation(s) in Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
ORPHA:137639 
- Disease-causing germline mutation(s) in Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
ORPHA:447893 - Disease-causing germline mutation(s) in Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
ORPHA:88637 - Disease-causing germline mutation(s) in Odontoleukodystrophy
ORPHA:77295 - Disease-causing germline mutation(s) in Tremor-ataxia-central hypomyelination syndrome
ORPHA:447896 - Disease-causing germline mutation(s) in Wiedemann-Rautenstrauch syndrome
ORPHA:3455
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.