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SMPX encodes a small protein that has no known functional domains. Additionally we are shipping SMPX Antibodies (24) and and many more products for this protein.
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detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene
Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation.
We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss
A novel frameshift mutation in SMPX.
Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4.
SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei.
Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families.
Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations.
Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function.
This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes.
Mice carrying a mesenchymal-specific deletion of CSL/RBP-Jkappa, a key Notch effector, exhibit spontaneous multifocal keratinocyte tumors that develop after dermal atrophy and inflammation.
Csl localizes to the costameric cytoskeleton of muscle cells through an association with focal adhesion proteins, where it may participate in regulation of cytoskeletal dynamics through the Rac1-p38 pathway.
In knockout mice, mutates to no overt phenotype. Overexpression in C2C12 cells alters cell shape, migration and responsiveness to IGF signaling.
This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene.
small muscular protein
, stretch-responsive skeletal muscle protein
, X-linked small muscle protein
, small muscle protein X-linked
, cardiac and skeletal muscle protein
, chisel protein