Gene Symbol | SHROOM4 |
Entrez Gene ID | 57477 |
Full Name | shroom family member 4 |
Synonyms | SHAP,shrm4 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Stocco dos Santos X-linked mental retardation syndrome, 300434 (3) |