SMPX Antibody

1. 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 PMID: 29559740
2. Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation. PMID: 27181368
3. 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 PMID: 29287879
4. A novel frameshift mutation in SMPX. PMID: 28542515
5. 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. PMID: 24687041
6. SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei. PMID: 24936977
7. Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families. PMID: 22911656
8. Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations. PMID: 21893181
9. 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. PMID: 21549336
10. 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. PMID: 21549342

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HGNC: 11122

OMIM: 300066

KEGG: hsa:23676

STRING: 9606.ENSP00000368808

UniGene: Hs.734084