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Complete information for AHI1 gene (Protein Coding), Abelson Helper Integration Site 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. [1] Proper cerebellar and cortical development in the human brain depends heavil...
AHI1基因的突变会导致其编码的蛋白质功能异常，进而影响细胞的正常生理过程，最终引发疾病。 此外，AHI1基因的研究还揭示了其在 癌症 中的潜在作用。 一些研究表明，AHI1可能在某些类型的癌症中起到促进肿瘤生长的作用，这提示AHI1可能成为一个新的治疗靶点。
AHI1 and RPGR variants are reported to modify phenotypes associated with CEP290 mutations [178, 179]. The CEP290 protein level remains constant throughput the cell cycle, including in the G0 phase, yet pleiotropic fun...
AHI1 is a neurodevelopmental gene, and its expression deficiency was found to correlate with altered stress responses and depressive behaviors in mice. In a recent paper of Cell Research, Zhang et ...
AHI1（Abelson Helper Integration Site 1）是一种在细胞中广泛表达的基因，主要编码Jouberin蛋白，该蛋白在纤毛的形成和功能中起关键作用。 AHI1的生物学功能包括参与细胞骨架的组装、细胞极性的维持以及细胞内运输过程，尤其在神经元的发育和突触形成中具有重要作用。
鉴定 AHI1 基因中的一种新型截断变异体，并简要综述突变谱。 Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
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Learn about the AHI1 gene, its role in health, and its association with Joubert syndrome, Meckel-Gruber syndrome, and other rare neurological disorders. Explore genetic testing options for AHI1 mutations.
These findings suggest an important role for AHI1 in common brain disorders affecting human cognition and behaviour. Despite a strong genetic association of the AHI-1 gene with susceptibility to several neuronal disea...
