Ask about this productRelated genes to: PNPLA4 antibody
- Gene:
- PNPLA4 NIH gene
- Name:
- patatin like phospholipase domain containing 4
- Previous symbol:
- -
- Synonyms:
- DXS1283E, GS2, iPLA2eta
- Chromosome:
- Xp22.31
- Locus Type:
- gene with protein product
- Date approved:
- 2004-09-06
- Date modifiied:
- 2016-10-05
Related products to: PNPLA4 antibody
Related articles to: PNPLA4 antibody
- Colorectal cancer (CRC) is a highly aggressive gastrointestinal malignancy with significant global health consequences. While mitochondrial lipid metabolism genes are known to influence CRC progression, their prognostic relevance remains inadequately explored. - Source: PubMed
Publication date: 2025/11/10
Wang HouZhang KaiWang YueqiuChen MengyunZhang Mingchen - The broad phenotypic variability observed in patients with Xp22.31 deletion, traditionally associated with X-linked ichthyosis (XLI), is increasingly recognized as encompassing a wider spectrum of clinical manifestations. While ichthyosis, caused by gene deletion, remains the hallmark feature, recent studies and genomic analyses (e.g., chromosomal microarray and whole genome sequencing) have revealed additional extracutaneous phenotypes. These include corneal opacification, cryptorchidism, autism spectrum disorders, intellectual disability, epilepsy, developmental delay, renal anomalies, and an elevated risk of atrial fibrillation and other cardiac arrhythmias, particularly in males. Interestingly, duplications of this region are usually considered benign, underscoring the need for nuanced interpretation. - Source: PubMed
Publication date: 2025/06/25
Dantsev Ilya SBuianova Anastasiia APolykova Ekaterina BNikolaeva Ekaterina AVasilyev Evgenii VYakshina Angelina IuParfenenko Mariia AYablonskaya Mariia IKurinnaia Oksana SIourov Ivan Yu - X-chromosome inactivation (XCI) is a dosage compensation mechanism in female mammals. Given that the Xchromosome harbours numerous genes implicated in cognitive function, variants in these genes can affect neurodevelopment and contribute to Intellectual Disability (ID). While research on ID has predominantly focused on males due to their hemizygous Xchromosome state, females, though often presenting with milder symptoms, may be affected by escape genes that evade XCI and influence the phenotype. This study investigated the role of escape genes in female ID. - Source: PubMed
Publication date: 2025/06/24
de Oliveira Lizandra AbreuPiergiorge Rafael MinaSantos-Rebouças Cíntia Barros - - Source: PubMed
Chen Chih-Ping - X-chromosome variants contribute significantly to hypospadias risk but have not been fully elucidated in the Chinese population. Here we aim to assess how X-chromosome variants contribute to hypospadias susceptibility in the Chinese population. - Source: PubMed
Publication date: 2025/05/07
Liu YanqingLi BinyaoDeng FumingZhao XinyingLiu ZhihaiZhao JingluFu WenZhang YanZuo Xiaoyu