Ask about this productRelated genes to: CERKL Blocking Peptide
- 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 Blocking Peptide
Related articles to: CERKL Blocking Peptide
- : Non-syndromic retinitis pigmentosa (RP) is characterized by rod-cone degeneration, resulting in night blindness, visual field constriction, and eventual blindness. Recessively inherited RP is predominantly exacerbated in consanguineous populations, such as Pakistan. This study aimed to perform the genetic analysis of sixteen non-syndromic RP segregating Pakistani families, and to summarize the mutation spectrum of non-syndromic RP in our population by reviewing related literature. : We screened 16 non-syndromic RP families using targeted capture panel sequencing of 344 genes related to inherited retinal dystrophies. Variants were prioritized based on rarity (minor allele frequency (MAF) < 0.001 in the gnomAD South Asian subset), pathogenicity assessments using ACMG/AMP criteria, and REVEL scores (>0.5). Candidate variants were validated for familial segregation through Sanger sequencing. : We identified 15 distinct variants across 14 genes associated with non-syndromic retinitis pigmentosa, comprising 6 missense, 7 nonsense, 1 frameshift, and 2 splice-site variants, including 4 novel variants, i.e., p.(Val220Met) and p.(Pro1282SerfsTer2) in , 1 each in (c.2021+5G>A), and p.(Ser38Ter). Homozygosity predominated, underscoring the impact of consanguinity on the burden of autosomal recessive disease in the present cohort, while the disease-causing mutation, i.e., p.(Arg257Ter), recurred in two families. : This study expands Pakistan's non-syndromic RP mutational spectrum by identifying novel variants in , and alongside recurrent and mutations of the local population. The literature review suggests that and are among the most mutated genes in our population, supporting the value of population-specific genetic panels to enhance diagnostics and carrier screening. - Source: PubMed
Publication date: 2026/04/29
Shan TayyabaMukhtar NimraUllah Sayyed HammadUllah AsadKhan Asfandyar AhmadLi YumeiWang MengTehreem RaeesaAziz AmtulAfshan KiranChen RuiFirasat Sabika - 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