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Details of NOP10 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| NOP10 | NOLA3 | Q9NPE3 | NOP10_HUMAN | 55505
| ENSG00000182117
| H/ACA ribonucleoprotein complex subunit 3 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Note=The disease is caused by mutations affecting the gene represented in this entry. |
224230 |
