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Details of MAP2K2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MAP2K2 | MEK2,MKK2,PRKMK2 | P36507 | MP2K2_HUMAN | 5605
| ENSG00000126934
| Dual specificity mitogen-activated protein kinase kinase 2 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]: Characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry. |
115150 |
