Ask about this productRelated genes to: CERKL antibody
- Gene:
- CERKL NIH gene
- Name:
- ceramide kinase like
- Previous symbol:
- RP26
- Synonyms:
- -
- Chromosome:
- 2q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-26
- Date modifiied:
- 2015-11-12
Related products to: CERKL antibody
Related articles to: CERKL antibody
- Retinitis pigmentosa (RP) is one of the main causes of hereditary blindness, and its genetic mode shows high heterogeneity. Among them, the mutation of the CERKL gene has been identified as the causative gene related to autosomal recessive hereditary RP. The underlying pathogenic mechanisms have remained obscure, hindering the development of effective therapies. This study aimed to elucidate the pathogenic mechanism linking CERKL deficiency to retinal degeneration and to identify a potential mechanism-based therapy. - Source: PubMed
Gao PanLi PeiQin YayunHu HualeiReilly JamesFu YiyangWang QinengRen MengmengLuo JiongZhu YuejieDai LiyanShu XinhuaRen XiangLiu FeiLiu MugenXu ChengqiTang Zhaohui - Retinitis pigmentosa (RP) is an inherited heterogeneous neurodegenerative retinal disease leading to blindness eventually. Currently, a large number of studies have explored its heterogeneity, but the genotype-phenotype correlation remains unclear. The present study aimed to explore genetic mutations and the correlation between genotype-phenotype in three RP families from the Chinese Han population. - Source: PubMed
Publication date: 2025/09/28
Liu JianingHan MengmengZhang XiaoLi MiaomiaoLiu ShiguoJiang Nan - Retinitis Pigmentosa (RP) is a group of inherited retinal dystrophies with significant genetic heterogeneity. The prevalence and clinical characteristics may vary among different populations due to genetic and cultural factors. - Source: PubMed
Publication date: 2026/01/05
Demirkol AykutKendir Uguz FadimeCavus Nuri MuratDemirkol IlayTsang Stephen H - Pancreatic cancer (PC) is one of the common malignant tumors in gastrointestinal tract. The roles of CERKL in PC are unknown. - Source: PubMed
Zeng WenyingYang YinhuiLi WanlianPan JianHuang BorongZhang PengchengXiao Juan - Advances in genetic testing have improved IRD diagnostics and counseling. To enhance these advances and contribute to an inclusive genetic landscape, this study examines genetic causes in 111 Iranian patients clinically diagnosed with non-syndromic IRD (48% males, > 90% born to consanguineous parents, median age at genetic examination of 37 years (interquartile range 30-42)). Patients were analyzed by ethnicity. Whole exome sequencing using a vision disorder gene panel, including copy number variations analysis, was performed at Erasmus MC. Variants were classified per American College of Medical Genetics and Genomics guidelines, with clinical significance assessed via public databases. Genetic causes were identified in 66 patients (59%) across 31 genes, including 14 novel variants. Five patients were diagnosed with syndromic IRD based on genetic findings. Homozygous variants, indicating autosomal recessive (AR) inheritance, were detected in 62 patients (94%). The most affected genes were CERKL (n = 8), EYS (n = 7), and RPE65 (n = 6), with CERKL most common in Turks (n = 6), RPE65 in Kurds (n = 4), and EYS in Fars (n = 3). Variants of uncertain significance were identified in 35 patients (32%). This study identified 14 novel variants and a high prevalence of AR inheritance, underscoring the necessity of tailored genetic counseling and the importance of incorporating diverse populations into genetic research. - Source: PubMed
Publication date: 2025/07/03
Heutinck Pam A TIglesias Adriana IFarhud Dariush Dvan Tienhoven MarianneKhoshraftar AtiyehZarif-Yeganeh MarjanKia Sima KheradmandGhanbari MohsenSmoor Magda AKlaver Caroline C WHoefsloot Lies HThiadens Alberta A H JVerhoeven Virginie J M