Ask about this productRelated genes to: SMPX antibody
- Gene:
- SMPX NIH gene
- Name:
- small muscle protein X-linked
- Previous symbol:
- DFN6
- Synonyms:
- DFNX4
- Chromosome:
- Xp22.12
- Locus Type:
- gene with protein product
- Date approved:
- 1999-03-18
- Date modifiied:
- 2019-04-23
Related products to: SMPX antibody
Related articles to: SMPX antibody
- Nonsyndromic hearing loss (NSHL) is a highly prevalent, genetically heterogeneous condition, yet its molecular basis in the Singaporean population remains underexplored. We performed whole-exome sequencing and integrative bioinformatics analysis in 115 patients with NSHL to define population-specific genetic biomarkers. A molecular diagnosis was achieved in 57% of cases, with 76% of identified variants classified as pathogenic or likely pathogenic and 24% exhibiting high pathogenic potential. Common East Asian NSHL genes, including , , and , were frequently detected alongside less prevalent genes such as , , , , , , , , , , , , , , , highlighting extensive genetic heterogeneity. Notably, multiple novel variants, including c.554-2A>G, and TNC p.N750Y, were identified, expanding the known mutational spectrum of . Genotype-phenotype correlations revealed that variants were primarily associated with mild to moderate hearing loss, whereas variants correlated with severe to profound phenotypes in the Singaporean populations. Collectively, our study provides important insights into the genetic architecture of NSHL in Singapore's population. In addition, it supports improved molecular diagnosis yield and informed clinical management decisions as well as the advancement of precision medicine approaches aimed at reducing the burden of hearing loss in the region. - Source: PubMed
Publication date: 2026/02/26
Lim Che KangCheng Mei ShuangLow GerardTang Joyce Zhi'enNg Jia HuiOng Ni GinLeem Pei ShanLim Su AnnThong Jiun FongTan Vanessa Yee Jueen - The SMPX (small muscle protein X-linked) gene encodes a small-molecular-weight protein that is mainly expressed in skeletal and cardiac muscles and is involved in cytoskeletal dynamics and mechanical stress responses. In recent years, missense variants of the SMPX gene have been identified as the cause of a novel X-linked distal myopathy (Distal myopathy 7). This article has systematically reviewed the molecular functions, variant types, and pathological mechanisms of the SMPX gene by integrating its clinical classification, molecular pathological evidence, and experimental model data, and revealed its pathgenetic mechanism through protein aggregation, dynamic dysregulation of stress granules, abnormal Rac1/p38 signaling pathways, and future research directions. - Source: PubMed
Gao HaimingHe Rong - Cardiac aging involves the progressive structural and functional decline of the myocardium. Endurance training is a well-recognized non-pharmacological intervention that counteracts this decline, yet the molecular mechanisms driving exercise-induced cardiac rejuvenation remain inadequately elucidated. This study aimed to identify key effector genes and regulatory pathways by integrating human cardiac aging transcriptomic data with multi-omic exercise response datasets. - Source: PubMed
Publication date: 2025/07/11
Wang MingruiAzhati SamuhaerChen HangyuZhang YanyanShi Lijun - X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. This study reports a novel pathogenic variant in the gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the gene. - Source: PubMed
Zhai ZiyuXu HongenWang LeZhu XiaodanZhang YuanLi LingZhang XiaosaiLi TingxianWang KaixiYe Fanglei
- Source: PubMed