Ask about this productRelated genes to: TBC1D22A antibody
- Gene:
- TBC1D22A NIH gene
- Name:
- TBC1 domain family member 22A
- Previous symbol:
- C22orf4
- Synonyms:
- -
- Chromosome:
- 22q13.31
- Locus Type:
- gene with protein product
- Date approved:
- 2000-03-29
- Date modifiied:
- 2016-10-05
Related products to: TBC1D22A antibody
Related articles to: TBC1D22A antibody
- Telomere length (TL), a biomarker of biological aging, but its association with Alzheimer’s disease (AD) remains unclear. - Source: PubMed
Publication date: 2026/03/20
Khurshid ZainabTong TongOlayinka OluwatosinFarrell John JZhu Congcong Martin Eden RBush William SPericak-Vance Margaret AWang Li-SanSchellenberg Gerard DHaines Jonathan LLunetta Kathryn LZhang XiaolingFarrer Lindsay A - Telomere length (TL), a biomarker of biological aging, but its association with Alzheimer's disease (AD) remains unclear. - Source: PubMed
Publication date: 2025/12/17
Khurshid ZainabTong TongOlayinka OluwatosinFarrell John JZhu Congcong Martin Eden RBush WillPericak-Vance Margaret AWang Li-SanSchellenberg Gerard CHaines Jonathan LLunetta Kathryn LZhang XiaolingFarrer Lindsay A - TBC1D22B is a GTPase-activating protein (GAP) associated with poor prognosis in breast cancer (BC). Using complementary proximity-labeling and co-immunoprecipitation proteomics, the TBC1D22B interactome in BC cells is defined, revealing strong enrichment in components of the ER-to-Golgi trafficking machinery, endosomal transport, and adhesion-related pathways. Functional assays, using the Retention Using Selective Hooks (RUSH) system, demonstrate that TBC1D22B inhibits ER-to-Golgi transport in a GAP-dependent manner. Mechanistic studies identify RAB1B as a direct target of TBC1D22B, and RAB1B silencing phenocopies the trafficking defects caused by TBC1D22B overexpression. In 3D culture, TBC1D22B promotes spheroid growth in a manner dependent on its GAP activity and not replicated by its paralog TBC1D22A. Transcriptomic profiling reveals that TBC1D22B overexpression triggers repression of a core module of extracellular matrix and adhesion-related genes, consistent with altered secretory activity. Importantly, this transcriptional program is also evident in primary Luminal BC with high TBC1D22B expression, highlighting a conserved and functionally relevant signature. Together, these findings establish TBC1D22B as a regulator of ER-to-Golgi trafficking via RAB1B and implicate it in oncogenic transcriptional remodeling and tumor growth. - Source: PubMed
Publication date: 2025/08/29
Martino FlaviaLupi MariadomenicaMurabito AlessandraBedin FabioVillari GiuliaAndreoli LindaFreddi StefanoMatoskova BronislavaPennisi RosaFontana StellaFardin AmirBoncompain GaellePerez FranckBussolino FedericoCuomo AlessandroSigismund SaraLanzetti Letizia - Rheumatoid arthritis (RA) is an autoimmune disease influenced by genetic, environmental, and epigenetic factors. Epigenetic modifications, particularly DNA methylation, in immune-related genes may impact inflammation and immune responses. This study aims to analyze methylation patterns in RA patients and controls to identify diagnostic and prognostic epigenetic biomarkers. - Source: PubMed
Publication date: 2025/08/08
Mucientes ArkaitzNúñez Gracia María MartínMena-Vázquez NataliaLisbona-Montañez Jose ManuelManrique-Arija SaraGonzález-Jiménez AndrésRuiz-Limón PatriciaGarcia-Studer AimaraOrtiz-Márquez FernandoCano-García LauraFernández-Nebro Antonio - Phelan-McDermid syndrome (PMS; #MIM: 606232) is a rare neurodevelopmental disorder primarily caused by the haploinsufficiency of the gene, most often due to deletions encompassing the gene or single nucleotide variants within it. Individuals with PMS display a wide range of clinical abnormalities and considerable genetic heterogeneity. This study aims to investigate genotype-phenotype correlations in a cohort of 213 individuals with PMS and to identify novel candidate genes, beyond , that may contribute to the syndrome's diverse clinical manifestations. Unsupervised clustering based on deletion size and Global Functional Assessment of the Patient (GFAP, previously described and developed by our group), along with additional analytical approaches, were employed to explore genotype-phenotype relationships. Deletion size within the 22q13.3 region emerged as a major determinant of phenotype, with larger deletions associated with more severe global functional impairment. Furthermore, , , , and were identified as candidate genes within 22q13.3, potentially contributing to core PMS phenotypes, and their putative interactions were explored. Our findings support the central role of in PMS, while also indicating that it does not account for the full phenotypic spectrum. This study underscores the variable impact of distinct genetic alterations in PMS and proposes additional loci implicated in its pathogenesis. These insights may inform future therapeutic strategies, emphasizing the importance of patient stratification and precision medicine. - Source: PubMed
Publication date: 2025/05/13
Nevado JulianEscalada BlancaMuñoz-GªPorrero YolandaAdan CarmenTenorio-Castaño JairLapunzina Pablo Daniel