CTH

Description

The CTH gene, located on chromosome 12, codes for the protein cartilage-hair hypoplasia (RMRP) RNA. This protein is essential for the proper function of the mitochondrial RNA processing endoribonuclease (RNase MRP), a complex involved in the synthesis of rRNA and tRNA. Disruptions in CTH can lead to significant developmental abnormalities, particularly affecting bone and cartilage growth. This gene's vital role in skeletal development and its association with various genetic disorders make it a critical target for research in the fields of bone biology and developmental genetics.

Associated Diseases

• Cartilage-Hair Hypoplasia (RMRP)
• Severe Short Stature
• Skeletal Dysplasia
• Dwarfism
• Respiratory Complications
• Immune Deficiency
• Mental Retardation

Did you know?

Cartilage-hair hypoplasia is characterized by short stature and thin, sparse hair, often resulting in a distinctive appearance. It is one of the most common forms of dwarfism.