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Details of DDX11 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| DDX11 | CHL1,CHLR1,KRG2 | Q96FC9 | DDX11_HUMAN | 1663
| ENSG00000013573
| Probable ATP-dependent RNA helicase DDX11 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Warsaw breakage syndrome (WBRS) [MIM:613398]: A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613398 |
