SHROOM4 gene

shroom family member 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II.

From NCBI Gene:

  • Stocco dos Santos syndrome

From UniProt:

Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX): A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. [MIM:300434]

A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25.

A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22

Molecular Location: base pairs 50,575,534 to 50,814,167 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22