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 the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]

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 (By similarity).

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 50,814,164 on the X chromosome (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22
  • SHAP
  • shrm4