SHROOM4, Official Symbol SHROOM4provided by HGNC Official Full Name shroom family member 4provided by HGNC Primary source HGNC:HGNC:29215 See related Ensembl:ENSG00000158352 MIM:300579; AllianceGenome:HGNC:29215 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHAP; shrm4; MRXSSDS 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] Expression Broad expression in lung (RPKM 5.3), fat (RPKM 2.8) and 19 other tissues See more Orthologs mouse all