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 Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Description

shroom family member 4

Protein family

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

Chromosome

X:p11.22 (50591647 - 50814302)

Ensembl ID

ENSG00000158352  (ver. 84.38)

Orthologs

Mouse Shroom4: ENSMUSG00000068270

UniProt

Q9ULL8

neXtProt

NX_Q9ULL8

Human splice variants
Mouse splice variants