Ask about this productRelated genes to: HGSNAT antibody
- Gene:
- HGSNAT NIH gene
- Name:
- heparan-alpha-glucosaminide N-acetyltransferase
- Previous symbol:
- TMEM76
- Synonyms:
- FLJ32731, HGNAT
- Chromosome:
- 8p11.21-p11.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-09-23
- Date modifiied:
- 2018-11-16
Related products to: HGSNAT antibody
Related articles to: HGSNAT antibody
- Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a group of rare autosomal recessive lysosomal storage disorders caused by deficiency of enzymes involved in heparan sulfate degradation, encoded by (type A), (type B), (type C), or (type D). Progressive lysosomal accumulation leads to neurodegeneration, cognitive decline, behavioral disturbances, and premature death. Despite a global pooled birth prevalence of ∼0.76 per 100,000 live births, MPS III remains substantially underdiagnosed in Latin America. To date, only a single MPS IIIB case has been molecularly confirmed in Mexico, with no reported cases of MPS IIIA or IIIC. - Source: PubMed
Publication date: 2026/07/27
Naal-Chan PaolaEcheverria-Ortegon ErmiloCouoh-Castañeda Jary-DavisMillet-Herrera Jose-LuisSolis-Baeza Fabiola-ConcepcionPerez-Garcia Myrna-EdithRivera-Lavalle Jorge-SantiagoCastillo-Espinola Addy-ManuelaReyes-Flores Olga-BereniceCampos-Garcia Felix-Julian - To describe the expanding genotypic and phenotypic spectrum of isolated -related retinitis pigmentosa (RP). This retrospective case series included 3 patients with -related RP who presented to the Wilmer Eye Institute. Medical records and multimodal imaging findings were reviewed. Three patients were identified, aged 39 to 66 years. Symptom duration before presentation ranged from 3 months to 5 years, and best-corrected visual acuity ranged from 20/20 to 20/125. All 3 patients harbored the c.1843G>A (p.Ala615Thr) or the novel c.1102A>T (p.Lys368*) pathogenic variants and demonstrated wide phenotypic heterogeneity. This case series illustrates the diverse clinical presentations within the spectrum of -related RP and highlights the diagnostic challenges posed by cases with minimal fundoscopic abnormalities. - Source: PubMed
Publication date: 2026/06/24
Ruggeri Maria LudovicaHalawa OmarAhmed Ishrat - Biallelic variants in the HGSNAT gene are associated with Sanfilippo syndrome, a rare lysosomal storage disorder caused by deficiency of heparan acetyl CoA glucosamine N-Acetyl-transferase enzyme(HGSNAT). The syndrome is characterized by multiple systemic findings, including progressive neurological and retinal degeneration. Retinitis pigmentosa due to HGSNAT gene variants are rarely reported without systemic manifestations. - Source: PubMed
Publication date: 2026/07/06
Haefeli Lorena MParedes Diego IWyman Celeste SCapasso Jenina EChattannavar GouraKhetan VikasTallis EranLevin Alex V - Sialic acid O-acetylation is implicated in the modulation of sialoglycan recognition and ganglioside biology. The sugar modification is catalyzed by CASD1, a Golgi membrane protein that encompasses a luminal catalytic domain and a multipass transmembrane domain. The mechanism of how acetyl-CoA is provided to the Golgi remains poorly understood. Here, we show that the acetyl-CoA transporter SLC33A1 provides acetyl-CoA to the luminal domain of CASD1 and that patient-derived SLC33A1 variants linked to inherited neurodevelopmental and neurodegenerative disorders impair ganglioside 9-O-acetylation. Under conditions that enable the formation of 7,9-di-O-acetylated sialoglycans, genetic inactivation of SLC33A1 impaired di-O-acetylation, but unexpectedly, still enabled mono-O-acetylation. Structure prediction and site-directed mutagenesis revealed a second active site in CASD1 that shares striking similarities with the catalytic acetyl-CoA binding transmembrane tunnel of the lysosomal acetyltransferase HGSNAT. Together, our data provide strong evidence that CASD1 has dual functionalities and catalyzes 7,9-di-O-acetylation through SLC33A1-dependent luminal acetylation and SLC33A1-independent transmembrane acetylation. - Source: PubMed
Publication date: 2026/04/01
Albers MalenaBosse LydiaSchröter LarissaJunemann Anna-Maria TRossdam CharlotteHartmann MaikeGrove MelanieLitfin ThomasEgger Anna-SophiaKwiatkowski MarcelThedieck KathrinZocher GeorgBuettner Falk F RMalde Alpeshkumar Kvon Itzstein MarkMühlenhoff Martina - Inherited retinal dystrophies (IRDs) are a genetically diverse group of vision loss disorders with over 360 implicated genes. However, 30-50% of cases remain unresolved after panel-based clinical testing and may benefit from exome or genome sequencing for a genetic diagnosis. To manage the extensive and analytically demanding datasets generated by genome sequencing, we developed ReDGAP (Retinal Degeneration Genome Analysis Pipeline), a phenotype-guided, semi-automated genome analysis pipeline that integrates clinical phenotyping with flexible variant scoring to prioritize variants of interest ( https://github.com/vincentlab-la/ReDGAP ). The pipeline supports the joint analysis of multiple variant classes, using an evidence-weighted scoring system informed by in silico predictors. Validation in eleven previously solved IRD cases achieved a 100% re-identification rate. Application to five unsolved cases yielded diagnoses in four (80%), including intronic variants in CRB1 and HGSNAT, a tandem duplication in OAT, and a 5'UTR deletion affecting a retina-specific promoter of RPGRIP1. Functional validation confirmed transcript-level disruptions in three variants, while computational analysis demonstrated regulatory impact in the fourth. Integrating phenotypic data with broad variant analysis offers a tailored model for improving IRD diagnostics, enabling timely molecular diagnoses and informing eligibility for emerging gene-targeted therapies. This positions ReDGAP as a tailored, clinically relevant model for investigating rare diseases within the evolving landscape of precision health. - Source: PubMed
Publication date: 2026/03/28
Ahmed LaylaTavares ErikaLi Janice MinAhmed KashifMehta MaanikEileen ChristabelAh-Sen GenevieveOsman RahmaGreen-Sanderson KitDvaladze AnnaNimmo GraemeDeshwar Ashish RPaton TaraCasallo GuillermoMarshall Christian RHeon EliseVincent Ajoy