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
- The biological functions and mechanisms of many cell-type-specific transcriptional cofactors remain unclear. We previously identified () as a repressive transcriptional co-factor that suppresses Crx-mediated transactivation of photoreceptor genes; however, the biological function of remains unclarified. Here, we investigated the functions of and its paralog, (), in mice of either sex. Single knockout (KO) mouse retinas of or did not show significant alterations at both histological and functional levels compared to those of control mice. We then established and examined and double knockout ( DKO) mice. DKO mice exhibited decreased light-evoked activities detected by electroretinogram (ERG), impaired cone photoreceptor morphology revealed by immunohistochemistry, and structural deformity of cone outer segments and synaptic terminals indicated by transmission electron microscopy (TEM), followed by cone death at a later stage. Lipidomics analysis revealed elevated ganglioside levels in DKO retinas, consistent with the increased immunoreactivity of GT1b and GD3 in the outer segment layer. RNA-seq analysis was conducted in a cone-enriched context resulting from deficiency and showed that the gene, whose mutations in humans cause retinitis pigmentosa (RP26), was upregulated in triple KO mice. Transcriptional assays showed that PPL suppressed Crx-mediated transactivation of In addition, AAV-mediated overexpression in the mouse retina induced significant photoreceptor cell death. Taken together, these findings suggest that the repressive Panky and Panky-like co-factors, which modulate Crx transcriptional activities and thus ganglioside levels in the mouse retina, are essential for cone photoreceptor structure and maintenance. The retina is a light-sensing neural tissue in the eye. Photoreceptor cells (PRs) in the retina receive light stimuli. Rod PRs mediate dim-light vision, whereas cone PRs are responsible for bright and color vision. The present study identified that and genes are predominantly expressed in PRs in the mouse retina. and double-knockout mice exhibit impaired cone cell morphology, cone cell death, and visual dysfunction. In addition, gangliosides, which are chemically bonded lipids and sugars essential for cell membrane stability and function, accumulate in the photoreceptor layer. This study showed that and genes regulate ganglioside levels in the retina and play essential roles in the structure and maintenance of cone photoreceptor cells. - Source: PubMed
Publication date: 2026/07/16
Tu Hung-YaGyoten DaichiSumihiro HitoshiMichikawa KayokoMiyanohara YukiHuang ShangyuanAbe ShinyaFujieda KazukiKajimura NaokoChaya TaroIkeda KazutakaFurukawa Takahisa - : 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