Gene: SHROOM4

Alternate names for this Gene: SHAP|shrm4

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: shroom family member 4

Type of Gene: protein-coding

rs781838721 in SHROOM4 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs17281496 in SHROOM4 gene and Malignant neoplasm of breast PMID 20852631 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.