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

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

X:p11.22 (50591647 - 50814302)

Ensembl ID

ENSG00000158352  (ver. 98.38)

Orthologs

Mouse Shroom4: ENSMUSG00000068270

UniProt

Q9ULL8

neXtProt

NX_Q9ULL8

Human splice variants
Mouse splice variants