DLX5

Description

The DLX5 (distal-less homeobox 5) is a protein-coding gene located on chromosome 7.

The DLX5 gene encodes a protein that plays a vital role in bone development and fracture healing. This protein belongs to the DLX gene family and acts as a transcription factor, controlling the expression of other genes. DLX5 is essential for proper development of the craniofacial, axial, and appendicular skeletons. Mutations in the DLX5 gene can lead to a condition called split-hand/split-foot malformation, characterized by abnormalities in the hands and feet. DLX5 acts as a crucial regulator of osteoblast differentiation, stimulating the expression of genes involved in bone formation. It is involved in both cartilage and bone development, playing a role in chondrogenesis and chondrocyte hypertrophy.

DLX5 is also known as SHFM1, SHFM1D.

Associated Diseases

• Split-Hand/foot malformation 1
• Isolated split hand-split foot malformation
• Split-Hand/foot malformation 1 with sensorineural hearing loss