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Details of POLR3B gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| POLR3B | --- | Q9NW08 | RPC2_HUMAN | 55703
| ENSG00000013503
| DNA-directed RNA polymerase III subunit RPC2 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]: An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614381 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
