SHROOM4

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]

Description

Shroom family member 4

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm, Vesicles, Focal adhesion sites

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (50591642 - 50814302)

Ensembl ID

ENSG00000158352  (ver. 103.38)

Orthologs

Mouse Shroom4: ENSMUSG00000068270

UniProt

Q9ULL8

neXtProt

NX_Q9ULL8

Human splice variants
Mouse splice variants

Protein structure