Ask about this productRelated genes to: SRP54 Blocking Peptide
- Gene:
- SRP54 NIH gene
- Name:
- signal recognition particle 54
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 14q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1991-12-05
- Date modifiied:
- 2016-06-22
Related products to: SRP54 Blocking Peptide
Related articles to: SRP54 Blocking Peptide
- Milk composition in dairy goats, an economically important trait, is coordinately governed by complex metabolic networks and genetic factors. This study employed extreme phenotype grouping and multi-omics analysis of Xinong Saanen dairy goats to systematically elucidate the metabolic and genetic regulatory mechanisms underlying milk fat, SNF, protein, and lactose. Using widely targeted metabolomics, we identified 795 milk metabolites. Differential metabolite analysis revealed 57, 94, 50, and 58 significantly altered metabolites in milk fat, SNF, protein, and lactose, respectively. Subsequent metabolomic GWAS of these metabolites demonstrated significant genetic signals for 17 milk fat-associated metabolites, annotating 330 candidate genes (e.g., JAK2, LIPC, LRP1B). Similarly, 33 SNF-associated metabolites exhibited heritable signals linked to 177 candidate genes (including DGAT2, TGFB1, and NPAS3). For the protein-associated metabolites, 9 showed significant signals corresponding to 18 candidate genes (e.g., SRP54, CABYR, PRRX1), and 6 lactose-associated metabolites carried heritable signals that were mapped to 47 key candidate genes (such as HMGCS1, RXRA, and ADCK1). Collectively, this work identifies critical metabolites and candidate genes governing distinct milk components, deciphers the genetic-metabolic regulatory network influencing milk composition traits from a multidimensional perspective, and provides novel targets for the precise molecular breeding of high-quality goat milk. - Source: PubMed
Publication date: 2026/02/20
Zhang ZhenNi MengkeHuang QingyingLi YifanGong XinglongLuo XinranWang WeiLuo JunLi Cong - A previously healthy Caucasian man in his 30s presented with a 9-week history of productive cough, fever and dyspnoea, initially treated as pneumonia with transient improvement. Examination revealed coarse right-sided crepitations and finger clubbing. Laboratory testing demonstrated persistent severe neutropenia and elevated inflammatory markers, while imaging showed persistent right middle lobe consolidation. Further history revealed recurrent respiratory infections, diarrhoea and poor dentition since childhood, with medical records showing possible neutrophil migration defect. The patient received 6 weeks of broad-spectrum antibiotics and granulocyte-colony stimulating factor, resulting in resolution of consolidation and modest neutrophil recovery. Acquired causes of immunosuppression were excluded through microbiological and immunological workup. Stool testing confirmed pancreatic exocrine insufficiency. Genetic testing identified a pathogenic heterozygous signal recognition particle-54 mutation, consistent with Shwachman Diamond-like syndrome. Given the risk of leukaemic transformation, the patient was referred for haematopoietic stem cell transplantation. This case underscores the need for a multidisciplinary approach to manage rare neutropenic syndromes. - Source: PubMed
Publication date: 2026/02/04
Borg Azzopardi DarrenVella AbigailCeci Bonello EtienneFarrugia DanielGerada EleanorGatt Alexander - This work summarizes 15 years of genetic research on neutropenia in the Polish pediatric cohort, explores the distribution and spectrum of disease-causing genetic variants associated with congenital neutropenia in Poland, and demonstrates the impact of a nationwide information campaign on increasing the efficiency of patient recruitment. The study included 126 patients with suspected congenital neutropenia recruited in 2008-2019 and 291 patients recruited in 2020-2023 as part of the FixNet project, which featured a nationwide information campaign. Molecular analyses were performed using Sanger sequencing (91 patients) and targeted next-generation sequencing (NGS) (326 patients) in a panel of neutropenia-related genes. The information campaign significantly increased the number of referred patients from 10.5 per year to 72.75 per year. Based on the results obtained, 102 patients belonging to 80 different families were diagnosed with severe congenital neutropenia (SCN) and neutropenia-related syndromes, the majority (43%) of whom harbored variants in the gene, including 12 novel ones. Most of the remaining cases were , , , and gene defects. This work describes the largest cohort of genetic variations associated with suspected congenital neutropenia (CN) in Poland and is an important contribution to the international SCN registry. - Source: PubMed
Publication date: 2025/11/26
Bąbol-Pokora KatarzynaDobrewa WeronikaBielska MartaJanczar SzymonMadzio JoannaJaworowska AleksandraKołtan SylwiaHennig MarcinRenke JoannaDachowska-Kałwak IwonaCienkusz MagdalenaMłynarski Wojciech - The Neijiang indigenous pig breed of China and the Western Large White pig breed have unique meat quality and carcass characteristics. However, the genetic factors and mechanisms influencing their distinct meat and carcass traits are still not well understood. Therefore, using weighted gene co-expression network analysis (WGCNA), this study aimed to identify key genes influencing these traits. - Source: PubMed
Publication date: 2025/06/24
Tecku Patrick Kofi MakafuiChen DongWang KaiYu ShixinChen JiamiaoTang Guoqing - The signal recognition particle (SRP) is a highly conserved ribonucleoprotein (RNP) that translocates a subset of secreted and integral membrane proteins to the endoplasmic reticulum for proper localization. The most conserved SRP protein component, SRP54, has been implicated in the molecular etiology of spinal muscular atrophy (SMA). A key feature of SMA is the selective loss of motor neurons; however, the mechanism underlying this selectivity is unknown. SMA arises from deficient levels of the ubiquitously expressed Survival of Motor Neuron (SMN) protein. SMN is proposed to assemble the SRP, and SMN deficiency in SMA may attenuate SRP function and contribute to motor neuron death in patients. Using zebrafish embryos homozygous for a srp54 nonsense mutation (srp54), we investigated the requirement of Srp54 protein in motor axon development. The first grossly distinguishable phenotype observed in srp54 embryos was reduced motility at 30 h postfertilization (hpf). Additionally, we detected reduced length and branching of caudal primary motor axons in srp54 embryos compared to srp54 and srp54 siblings at 30 hpf, suggesting that defective motor neurons may contribute to the observed immotility. We also examined additional neural, secretory, and migratory cell types at 30 hpf to assess whether motor neurons are especially vulnerable to Srp54 deficiency. Of the cell types evaluated, only the hatching gland had distinct expression pattern alterations in srp54 embryos at this developmental stage. Our findings suggest that Srp54 deficiency results in motor neuron developmental defects and support the hypothesis that SRP54 may influence motor neuron selectivity in SMA. - Source: PubMed
Publication date: 2025/05/04
Losievski NikaelaKamath PoojaFox AshleyAloi Natalie MBaird Megan CEverest AmyGallagher Thomas LAmacher Sharon LKolb Stephen J