Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene. [5] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles.

Mar 30, 2025 · SPTBN1 (Spectrin Beta, Non-Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTBN1 include Developmental Delay, Impaired Speech, And Behavioral Abnormalities and Pervasive Developmental Disorder .

Jul 1, 2021 · The SPTBN1 gene codes for a protein called beta-two spectrin, which is abundantly expressed in the brain and other parts of the body. Beta-two spectrin makes protein networks within cells, and it is essential for the brain's development and connectivity.

Jan 1, 2021 · βII spectrin, the most common isoform of non-erythrocyte spectrin, is a cytoskeleton protein present in all nucleated cells. Interestingly, βII spectrin is essential for the development of various organs such as nerve, epithelium, inner ear, liver and heart.

SPTBN1 inhibits inflammatory responses and hepatocarcinogenesis via the stabilization of SOCS1 and downregulation of p65 in hepatocellular carcinoma. SPTBN1 suppresses the progression of epithelial ovarian cancer via SOCS3-mediated blockade of the JAK/STAT3 signaling pathway.

SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies.

Jul 1, 2021 · Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and...

SPTBN1 is found to be fused with other genes in lung cancer, ovarian cancer, atypical chronic myeloid leukemia (aCML) and myeloproliferative disease (MPD). βII spectrin is mutated in oropharyngeal squamous cell carcinomas (OPSCC), Osteoporosis and …

The SPTBN1 gene encodes neuronal beta-II spectrin, which is the most abundant beta-spectrin in the brain. It forms tetramers with alpha-II spectrin (SPTAN1; 182810) that intercalate F-actin rings to build a submembranous periodic skeleton (summary by Cousin et al., 2021).

Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5.