ALX1 : ALX homeobox 1

Description

The ALX1 (ALX homeobox 1) is a protein-coding gene located on chromosome 12.

The ALX1 gene provides instructions for producing a protein belonging to the homeobox protein family. Homeobox proteins guide the formation of body structures during early embryonic development. The ALX1 protein is essential for the normal development of the head and face, particularly the formation of the eyes, nose, and mouth, which starts around the fourth week of development. The ALX1 protein is a transcription factor, which means it binds to DNA and regulates the activity of certain genes. Specifically, it controls the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and are positioned correctly during development.

ALX1 is a transcription factor that binds to specific DNA sequences called palindromes within gene promoters. It can either activate or repress the expression of a subset of genes. ALX1 is crucial for the development of craniofacial structures derived from mesenchyme, a type of tissue that gives rise to connective tissues. Early in development, ALX1 is involved in the survival of the mesenchyme in the forebrain. It can also induce epithelial to mesenchymal transition (EMT) by regulating the expression of the SNAI1 gene.

ALX1 is also known as CART1, FND3, HEL23.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing