AHI1

AHI1: A Vital Gene in Human Health and Disease

Introduction

AHI1, also known as Abelson Helper Integration Site 1, is an essential gene that plays a critical role in several cellular processes, including cell cycle regulation, DNA replication, and repair. Mutations in the AHI1 gene have been linked to a wide range of diseases, including cancer and neurodevelopmental disorders.

Description

AHI1 is located on chromosome 6p21.3 and encodes a protein known as AHI1L. This protein is a member of the SET domain protein family, which is characterized by a highly conserved domain that is responsible for methylating histones. Histone methylation is a crucial epigenetic modification that regulates gene expression.

Associated Diseases

Mutations in the AHI1 gene have been associated with several diseases, including:

• Cancer: AHI1 mutations have been identified in various types of cancer, including leukemia, lymphoma, and breast cancer. These mutations often lead to the overexpression of AHI1, which promotes cell proliferation and inhibits apoptosis (programmed cell death).
• Neurodevelopmental disorders: Mutations in AHI1 have also been linked to neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability. These mutations often disrupt the normal function of AHI1 in regulating gene expression in the brain.

Did you Know ?

Approximately 1 in 500 people carry a mutation in the AHI1 gene. This suggests that AHI1 mutations are relatively common in the population. However, the penetrance of AHI1 mutations is low, meaning that not all individuals who carry a mutation will develop a disease.