Gene Symbol: SPTBN4
Description: spectrin beta, non-erythrocytic 4
Alias: CMND, SPNB4, SPTBN3, spectrin beta chain, non-erythrocytic 4, beta-IV spectrin, spectrin beta chain, brain 3, spectrin, non-erythroid beta chain 3
Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel J, et al
. betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system. J Cell Biol. 2000;151:985-1002 pubmed
..Thus, we suggest that betaIVSigma1 spectrin interacts with ankyrin(G) 480/270-kD and participates in the clustering of voltage-gated Na(+) channels and cell-adhesion molecules at initial segments and nodes of Ranvier. ..
Tse W, Tang J, Jin O, Korsgren C, John K, Kung A, et al
. A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. J Biol Chem. 2001;276:23974-85 pubmed
..Spectrin betaIV is the first beta-spectrin associated with a subnuclear structure and may be part of a nuclear scaffold to which gene regulatory machinery binds. ..
Yang Y, Wang X, Liu Y, Fu Q, Tian C, Wu C, et al
. Transcriptome analysis reveals enrichment of genes associated with auditory system in swimbladder of channel catfish. Comp Biochem Physiol Part D Genomics Proteomics. 2018;27:30-39 pubmed publisher
..or detection of mechanical stimulus involved in sensory perception of sound, such as coch, kcnq4, sptbn1, sptbn4, dnm1, ush2a, and col11a1...
Wang C, Ortiz Gonzalez X, Yum S, Gill S, White A, Kelter E, et al
. βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018;102:1158-1168 pubmed publisher
..Here, we report bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes ..
Knierim E, Gill E, Seifert F, Morales Gonzalez S, Unudurthi S, Hund T, et al
. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum Genet. 2017;136:903-910 pubmed publisher
..We found a homozygous nonsense mutation in SPTBN4 [c.1597C>T, NM_020971.2; p.(Q533*), NP_066022...
Kichkin E, Visvanathan A, Lovicu F, Shu D, Das S, Reddel S, et al
. Postnatal Development of Spasticity Following Transgene Insertion in the Mouse ?IV Spectrin Gene (SPTBN4). J Neuromuscul Dis. 2017;4:159-164 pubmed publisher
..The results confirm the importance of ?IV spectrin for maintaining central motor pathway control of the hind limbs, and provide a developmental time course for the phenotype. ..
D Este E, Kamin D, Balzarotti F, Hell S. Ultrastructural anatomy of nodes of Ranvier in the peripheral nervous system as revealed by STED microscopy. Proc Natl Acad Sci U S A. 2017;114:E191-E199 pubmed publisher
Komada M, Soriano P. [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier. J Cell Biol. 2002;156:337-48 pubmed
..These results indicate that betaIV-spectrin and ankyrin-G mutually stabilize the membrane protein cluster and the linked membrane cytoskeleton at AIS and NR. ..
Anazi S, Maddirevula S, Salpietro V, Asi Y, Alsahli S, Alhashem A, et al
. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017;136:1419-1429 pubmed publisher
..of these variants represent the first confirmatory disease-gene links following previous reports (TRAK1, GTF3C3, SPTBN4 and NKX6-2), some of which were based on single families...