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Details of MYH11 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MYH11 | KIAA0866 | P35749 | MYH11_HUMAN | 4629
| P78422
| Q3MIV8 | ENSG00000133392 |
Disease |
|---|
| Disease |
OMIM id |
| Note=A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13q22). The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11. |
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Familial aortic aneurysm thoracic 4 (AAT4) [MIM:132900]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers |
and an accumulation of basophilic ground substance. Note=The disease is caused by mutations affecting the gene represented in this entry. |
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of the aorta, Abnormality of the aortic valve, Abnormality of the cardiovascular system, Abnormality of the eye, Abnormality of the heart, Abnormality of the heart valves, Abnormality of the systemic arterial tree, Abnormality of the vasculature, All, Aneurysm, Aortic aneurysm, Aortic dilatation, Aortic dissection, Autosomal dominant inheritance, Bicuspid aortic valve, Dissecting aortic aneurysm, Malformation of the heart and great vessels, Mode of inheritance, Phenotypic abnormality.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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