Ask about this productRelated genes to: AGBL5 antibody
- Gene:
- AGBL5 NIH gene
- Name:
- ATP/GTP binding protein like 5
- Previous symbol:
- -
- Synonyms:
- FLJ21839, CCP5
- Chromosome:
- 2p23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2007-03-27
- Date modifiied:
- 2016-06-21
Related products to: AGBL5 antibody
Related articles to: AGBL5 antibody
- Tubulin post-translational modifications confer diverse functions to microtubules, with polyglutamylation representing a dynamic modification governed by coordinated glutamylation and deglutamylation. AGBL5 functions as a deglutamylase that removes glutamate residues at branch points within polyglutamate chains. While pathogenic variants in human are associated with retinitis pigmentosa, the underlying mechanism remains poorly defined. In the present study, an knockout mouse model was established and exhibited pronounced tubulin hyperglutamylation in photoreceptors, followed by progressive retinal degeneration. Transcriptomic profiling identified widespread disruption of ciliary function in knockout mice. Ultrastructural analysis by transmission electron microscopy revealed an impaired inner scaffold within the connecting cilium. Consistent with this defect, key phototransduction proteins were mislocalized or down-regulated in both mutant rod and cone photoreceptors, accompanied by severe disorganization of outer segment disk membranes. Immunofluorescence further demonstrated impaired recruitment of IFT88, kinesin-II, and dynein-2 to the connecting cilium, suggesting defective intraflagellar transport. Collectively, these findings indicate that AGBL5-dependent tubulin glutamylation homeostasis is essential for photoreceptor survival through preservation of connecting cilium architecture and normal protein trafficking mediated by intraflagellar transport. - Source: PubMed
Publication date: 2026/02/10
Wang Hao-LinWang TingZhen Fang-YuanLin Yong-QiongTong Ying-JieWu Jia-HuiGuo Jia-XinWang Jia-JiaDong Shu-QianJanke CarstenMagiera Maria MZhang Hou-BinZou Tong-Dan - How can the effectiveness of exome sequencing be improved for diagnosing infertility, and what are the key challenges and lessons learned from analysing nine unrelated cases? - Source: PubMed
Publication date: 2025/10/24
Broojeni Jalal VElmahdy MohamedMitchell SachaRezaei MaryamSaharan AnkurElhady GhadaSafwat SylviaBareke EricAbdelrazek IbrahimXu ChengpengLi LeiBuckett WilliamAo AsanglaMiron PierreMajewski JacekAbdalla EbtesamSlim Rima - The glymphatic system plays a key role in brain waste clearance, but its genetic regulation remains poorly understood. Diffusion Tensor Image Analysis along the Perivascular Space (DTI-ALPS) index is a non-invasive imaging biomarker to asses glymphatic system activity. We integrated mean DTI-ALPS genome-wide association study (GWAS) data from 31,021 individuals of European ancestry with GTEx v8 multi-tissue eQTL data to perform transcriptome-wide association studies (TWAS) using Unified Test for Molecular Signature (UTMOST) and Functional Summary-based Imputation (FUSION). Gene-level associations were further validated by Multi-marker Analysis of Genomic Annotation (MAGMA). Causal inference was conducted using cis-Mendelian randomization (cis-MR) and summary-data-based Mendelian randomization (SMR), while colocalization was applied to provide evidence of strong associations between two traits within a single genetic region, thereby ensuring the stability of the MR conclusions. TWAS identified 17 candidate genes (AGBL5-IT1, CENPA, CGREF1, DNAJC5G, EMILIN1, GCAT, KHK, MAPRE3, OTOF, PLCL1, PREB, RBM43, RFTN2, SERPIND1, SNAP29, TRIOBP, and UCN), among which six protein-coding genes (TRIOBP, MAPRE3, EMILIN1, KHK, GCAT, and CGREF1) were further validated by MAGMA. Cis-MR provided evidence for the causal effects of these six genes, while colocalization supported that the MR conclusions were stable for four of them (TRIOBP, MAPRE3, EMILIN1, and GCAT). Finally, SMR identified three genes (TRIOBP, GCAT, and MAPRE3) that showed consistent and robust associations with DTI-ALPS across multiple tissues. These findings provide statistical evidence for genetic regulation of glymphatic function. - Source: PubMed
Publication date: 2025/12/05
Zhu XiaoyangWang ShengjieZhang ShuaiqiLiu ZhiyuanWang NaWang ShuYang Nixia - Retinitis pigmentosa (RP) affects around 1 in 4000 individuals and represents approximately 25% of cases of vision loss in adults, through death of retinal rod and cone photoreceptor cells. It remains a largely untreatable disease, and research is needed to identify potential targets for therapy. Mutations in 94 different genes have been identified as causing RP, including AGBL5 which encodes the main deglutamylase that regulates and maintains functional levels of cilia tubulin glutamylation, which is essential to initiate ciliogenesis, maintain cilia stability and motility. In this study we use CRISPR-mutated AGBL5 clonal retinal pigmented epithelial cell lines to characterise the cilia defects and hyperglutamylation in these cells and identify potential targets for treatment. We demonstrate rescue of glutamylation to wild-type levels and restoration of ciliogenesis in AGBL5 mutant cells through exogenous expression of AGBL5, and independently through both stable genomic mutation and transient siRNA knockdown of TTLL5, which encodes a tubulin glutamylase. This identifies two potential routes to treatment for patients with RP associated with mutations in AGBL5 which will need to be explored further in retinal organoid models of this disease. - Source: PubMed
Publication date: 2025/09/09
Villa-Vasquez Suly SNazlamova LiliyaPengelly Reuben JWilson David IBaralle DianaWheway Gabrielle - The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease. In this study, we performed exome sequencing in probands of eight unrelated families from Italy, Spain, Palestine, Switzerland, and Greece. All subjects had a clinical diagnosis of (suspected) Usher syndrome type II for the concurrent presence of RP and post-verbal sensorineural hearing loss (SNHL) that ranged from mild to moderate.We identified biallelic sequence variants in AGBL5 in all analysed subjects. Four of the identified variants were novel. The variants co-segregated with the retinal and auditory phenotypes in additional affected family members. We did not detect any causative variants in known deafness or Usher syndrome genes that could explain the patients' hearing loss. We therefore conclude that SNHL is a feature of a syndromic presentation of AGBL5 retinopathy. This study provides the first evidence that mutations in AGBL5 can cause syndromic RP forms associated with hearing loss, probably due to dysfunction of sensory cilia in the retina and the inner ear. - Source: PubMed
Publication date: 2024/12/13
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