Alpha parvalbumin, human, 15N
- Known as:
- Alpha parvalbumin, H. sapiens, 15N
- Catalog number:
- 201PARA01_N
- Category:
- -
- Supplier:
- ProtEra
- Gene target:
- Alpha parvalbumin human 15N
Related genes to: Alpha parvalbumin, human, 15N
- Gene:
- PMPCA NIH gene
- Name:
- peptidase, mitochondrial processing alpha subunit
- Previous symbol:
- INPP5E
- Synonyms:
- KIAA0123, Alpha-MPP
- Chromosome:
- 9q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-05-23
- Date modifiied:
- 2016-03-15
Related products to: Alpha parvalbumin, human, 15N
Related articles to: Alpha parvalbumin, human, 15N
- The SPINK2 protein, encoded by the SPINK2 gene, plays an essential role in the normal development of spermatozoa, and its deficiency is associated with spermatogenesis disorders ranging from aspermia to azoospermia. This study aimed to identify the most deleterious variants of the SPINK2 gene and to evaluate their effects on protein structure and function through an in silico approach. A total of 8,028 variants were identified, including 72 missense variants. Using 11 bioinformatics tools, six variants (P50L, T58I, C66Y, E62A, P42S, and P45L) were predicted to have deleterious effects. Protein-protein interaction analysis using the STRING database revealed strong functional associations between SPINK2, SPINK1, and ACR, and medium-confidence associations with SPINK4, SPINK13, PMPCA, KLK4, SPINK9, SPINK6, SPACA1, and NUDT8. Local structural analysis showed that variants such as T58I and C66Y gained additional hydrophobic interactions, whereas P50L and P42S lost key interactions, potentially impairing protein stability and function. Molecular dynamics simulations using GROMACS revealed that P50L enhances protein stability, reduces amino acid flexibility, and increases the overall dimensions of the protein. T58I had a mild effect on stability, whereas E62A and C66Y decreased stability and flexibility while increasing protein size. P42S and P45L induced slight stability alterations, reduced flexibility, and enlarged the protein. Overall, these structural and dynamic changes suggest functional impairment of SPINK2. To our knowledge, this is the first study to identify six deleterious SPINK2 variants with potential roles in the disruption of spermatogenesis, providing a foundation for future functional and clinical investigations. - Source: PubMed
Publication date: 2026/01/30
Elkarhat GhitaAit Benichou SamahRedouane SalaheddineBarakat AbdelhamidSoukri AbdelazizEl Khalfi BouchraRouba Hassan - Diabetic peripheral neuropathy (DPN), the most prevalent complication of diabetes, currently lacks disease-modifying therapies. While Tangluoning recipe (TLN)-a traditional Chinese herbal medicine derived from Huangqi Guizhi Wuwu decoction-demonstrates therapeutic efficacy against DPN symptoms, its mechanism remained elusive. This study pioneers two transformative advances: Uncovering a previously unrecognized pathogenic axis linking mitochondrial thioredoxin (Trx2) deficiency to DPN demyelination; Establishing a novel dual-target therapeutic strategy that concurrently rescues mitochondrial dysfunction and lipid metabolic homeostasis. - Source: PubMed
Publication date: 2025/12/03
Zhu YanboLi XiaoGao YingyingTie YanLiu HaolongYang XinweiXu Liping - This study intended to explore the molecular mechanisms and the mitochondrial metabolic characteristics of sepsis-associated acute kidney injury (S-AKI) through bioinformatics analysis and experimental validation. - Source: PubMed
Publication date: 2025/10/17
Xia YichunQian YimingHu GuanyuPu YuehongGuo Jian - Autosomal recessive cerebellar ataxias (ARCA) are rare heterogenous neurodegenerative disorders characterized by degeneration of the cerebellum and spinal cord with an early onset before the age of 20 years. PMPCA (MIM: 613036), is a key enzyme in mitochondrial protein processing which is critical for cell survival and growth. Our objective was to investigate Peptidase, Mitochondrial Processing Subunit Alpha (PMPCA) mutations linked with Spinocerebellar ataxia, autosomal recessive 2 (SCAR2). - Source: PubMed
Bagabir Hala AbubakerAbdulkareem Angham AbdulrhmanMuthaffar Osama YousefShirah Bader HNaseer Muhammad Imran - The pathophysiology of toxico-nutritional optic neuropathies remains debated, with no clear understanding of the respective roles played by the direct alcohol toxicity, smoking and the often associated vitamin deficiencies, which are risk factors for optic neuropathy. Our aim was to investigate genetic susceptibility in patients with bilateral infraclinical optic neuropathy associated with chronic alcohol use disorder. - Source: PubMed
Publication date: 2024/05/25
Delibes CamilleFerré MarcRozet MarineDesquiret-Dumas ValérieDescatha AlexisGohier BénédicteGohier PhilippeAmati-Bonneau PatriziaMilea DanReynier Pascal