Ask about this productRelated genes to: FAM76A antibody
- Gene:
- FAM76A NIH gene
- Name:
- family with sequence similarity 76 member A
- Previous symbol:
- -
- Synonyms:
- MGC34648
- Chromosome:
- 1p35.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-15
- Date modifiied:
- 2016-09-30
Related products to: FAM76A antibody
Related articles to: FAM76A antibody
- Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality, with chronic obstructive pulmonary disease (COPD) identified as a major risk factor. However, the molecular overlap between LUAD and COPD remains poorly understood. This study aimed to identify shared hub genes and to evaluate their functional significance in LUAD. - Source: PubMed
Publication date: 2025/12/26
Zhu DanZhu Jun - Xia-Gibbs syndrome (XGS; MIM# 615829) is a rare mendelian disorder characterized by Development Delay (DD), intellectual disability (ID), and hypotonia. Individuals with XGS typically harbor de novo protein-truncating mutations in the AT-Hook DNA binding motif containing 1 (AHDC1) gene, although some missense mutations can also cause XGS. Large de novo heterozygous deletions that encompass the AHDC1 gene have also been ascribed as diagnostic for the disorder, without substantial evidence to support their pathogenicity. We analyzed 19 individuals with large contiguous deletions involving AHDC1, along with other genes. One individual bore the smallest known contiguous AHDC1 deletion (∼350 Kb), encompassing eight other genes within chr1p36.11 (Feline Gardner-Rasheed, IFI6, FAM76A, STX12, PPP1R8, THEMIS2, RPA2, SMPDL3B) and terminating within the first intron of AHDC1. The breakpoint junctions and phase of the deletion were identified using both short and long read sequencing (Oxford Nanopore). Quantification of RNA expression patterns in whole blood revealed that AHDC1 exhibited a mono-allelic expression pattern with no deficiency in overall AHDC1 expression levels, in contrast to the other deleted genes, which exhibited a 50% reduction in mRNA expression. These results suggest that AHDC1 expression in this individual is compensated by a novel regulatory mechanism and advances understanding of mutational and regulatory mechanisms in neurodevelopmental disorders. - Source: PubMed
Publication date: 2022/09/24
Chander VarunaMahmoud MedhatHu JianhongDardas ZainGrochowski Christopher MDawood MoezKhayat Michael MLi HeLi ShoudongJhangiani ShaliniKorchina ViktoriyaShen HuaWeissenberger GeorgeMeng QingchangGingras Marie-ClaudeMuzny Donna MDoddapaneni HarshaPosey Jennifer ELupski James RSabo AnikoMurdock David RSedlazeck Fritz JGibbs Richard A - Wilms tumor 1 associated protein (WTAP) modulates other genes via transcriptional and post-transcriptional regulation, in particular, by acting as a N6-methyladenosine writer or binding to the 3'UTR of mRNA, and promotes a variety of tumuors. However, the roles and mechanisms of WTAP in ovarian cancer are unknown. - Source: PubMed
Publication date: 2020/09/30
Wang JingXu JingLi KeHuang YunkeDai YilinXu CongjianKang Yu