Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features | tumoral
|  
|  
| --low
|  
|
decreased in hepatocellular carcinoma, which correlated with poor prognosis | tumoral
|  
|  
| --low
|  
|
in patients with Pancreatic cancer (PC) in association with metastatic disease | |
| Mice homozygous for mutant allele p(100H), which interrupt the p gene and the Sox6 gene, show delayed growth, develop progressive atrioventricular heart block, significant ultrastructural changes in both cardiac, skeletal muscle cells and die within 2 wk after birth | |
Sox6 single null mice are born with mild skeletal abnormalities |
|
Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia |
|
Sox6-deficient mice are anemic due to impaired red cell maturation and show inappropriate globin gene expression in definitive erythrocytes |