AP4S1
- Known as:
- AP4S1
- Catalog number:
- 001736A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AP4S1
Related genes to: AP4S1
- Gene:
- AP4S1 NIH gene
- Name:
- adaptor related protein complex 4 subunit sigma 1
- Previous symbol:
- -
- Synonyms:
- CLA20, AP47B, SPG52
- Chromosome:
- 14q12
- Locus Type:
- gene with protein product
- Date approved:
- 2000-09-01
- Date modifiied:
- 2018-04-23
Related products to: AP4S1
Related articles to: AP4S1
- In this study, we designed a gene panel based on Nanopore long-read sequencing using adaptive sampling, targeting n = 564 genes associated with Parkinson's disease (PD) and repeat expansion disorders. We investigated its diagnostic utility in n = 18 patients with (1) pathogenic variants in LRRK2, PRKN, SNCA, and RAB32 (n = 7); (2) idiopathic PD or FTD negative for known genetic causes (n = 3); (3) repeat expansions in ATXN1, ATXN2, ATXN3, C9orf72, DAB1, FGF14, HTT, and TAF1-SVA (n = 8). Three individuals were multiplexed per flow cell, achieving a mean coverage of 24X (SD = ± 9X) per sample. Ultimately, 17/20 (85%; Clopper-Pearson 95% CI: 62-97%) expected pathogenic variants were identified; i.e., an SNCA triplication and two repeat expansions in C9orf72 and TAF1-SVA were missed. Additional variants in STXBP2, AP4S1, RARS2, ALS2, and CNBP were identified in five patients. Adaptive sampling is a versatile genetic diagnostic tool in neurodegenerative disorders, while enabling cost-effective multiplexing. Further validation and improvements in bioinformatic analysis are needed. - Source: PubMed
Publication date: 2026/09/24
Fienemann AndréPrietzsche Julia CLaβ JoshuaMuch ChristophSchaake SusenLüth TheresaGabbert CarolinZimprich AlexanderStögmann ElisabethKönig TheresaGanos ChristosGül-Demirkale TuğçeBaşak A NazlıJamora Roland Dominic GRosales Raymond LSaranza GerardDiesta Cid Czarina EMöller MeretBorsche MaxKleinz TeresaBalck AlexanderBrüggemann NorbertSeibler PhilipKlein ChristineTrinh Joanne - Patients with suspected monogenic disorders often remain undiagnosed after exome sequencing. We report a family with two sisters affected by a complex spastic paraplegia. Initial exome sequencing had identified monoallelic pathogenic nonsense variants in and , subunits of the adaptor protein complex 4 (AP-4), suggesting digenic inheritance. As digenic inheritance has not been established for AP-4-associated disorders, we applied a multiomics approach including genome sequencing, RNA sequencing and proteomics to clarify the genetic cause. By RNA sequencing a predicted synonymous variant (NM_006594.5:c.969G > A), compound heterozygous to the nonsense variant in and previously considered as benign, was re-prioritized as aberrant splicing was demonstrated. Proteomics showed reduced abundance of AP-4 components AP4B1 and AP4M1 and an upregulation of the cargo protein ATG9A, confirming AP-4 deficiency. Although the variant resulted in nonsense-mediated decay, the identification of biallelic causative variants in established the diagnosis of monogenic "Spastic paraplegia 47, autosomal recessive" while the initial hypothesis of digenic inheritance was refuted. This study illustrates the value of multiomics approaches in the diagnostic workflow of rare diseases and the potential for pathogenicity of synonymous variants. - Source: PubMed
Publication date: 2026/08/12
Badmann SusannSaparov AliceHarrer PhilipBeuschlein JulianeDaumer-Haas CorneliaGraf ElisabethLudwig ChristinaMergner JuliaBrunet TheresaJacob MaureenProkisch HolgerWinkelmann JulianeMeitinger ThomasZech MichaelWagner Matias - Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of inherited neurodegenerative disorders characterized by progressive spasticity and weakness primarily of the lower extremities. Data describing pediatric HSP from the Levant region remain limited. - Source: PubMed
Publication date: 2026/07/14
Habanjar DimaKreidly SihamTrad SamahBoustany Rose-Mary - Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP), a childhood-onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP-4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]). Diagnosis is often confounded by variants of uncertain significance. We evaluated the ATG9A ratio, a measure of ATG9A mislocalization in patient-derived fibroblasts, as a functional assay of AP-4 deficiency. In six of eight individuals with suspected AP-4-HSP, the assay demonstrated loss of AP-4 function, establishing pathogenicity of novel variants. These findings support the ATG9A ratio as a clinically useful diagnostic tool for confirming AP-4-HSP and aiding the classification of novel variants. Trial Registration: ClinicalTrials.gov identifier: NCT06948019, NCT05518188, NCT06692712, NCT04712812. - Source: PubMed
Publication date: 2026/01/05
Agianda Habibah A PKim Hyo-MinBattaglia NicoleRong JoshuaTam AmyGonzalez Saez-Diez EnriqueBoerkoel Cornelius FSaffari AfshinQuiroz VicenteSchierbaum LucaZaman ZainabBernardi KaterinaEbrahimi-Fakhari Darius - To explore the clinical phenotype and genetic characteristics of a child with hereditary Spastic paraplegia type 52 (SPG52) due to variant of AP4S1 gene. - Source: PubMed
Yang LiZhu ZihaoHua RanWang BaotianJiang JunhongTang JiulaiWu Der