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SHROOM4

Official Full Name
shroom family member 4
Organism
Homo sapiens
GeneID
57477
Background
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]
Synonyms
SHAP; shrm4; MRXSSDS;

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