TULP1

TULP1 is a gene located on the X chromosome in humans. It encodes a protein that is involved in the regulation of gene expression and the development of the brain and nervous system. The TULP1 gene is also associated with Hereditary Spastic Paraplegia Type 4, a rare genetic disorder that affects the nervous system.

The TULP1 gene is composed of 11 exons and codes for a protein of 830 amino acids. The protein contains several domains, including a CRAL-TRIO domain, which is involved in protein-protein interactions, and a C-terminal isomerase domain, which has been implicated in the regulation of gene expression.

Mutations in the TULP1 gene have been identified as the cause of Hereditary Spastic Paraplegia Type 4 in several families. The disorder is characterized by progressive weakness and spasticity of the lower limbs, leading to difficulty walking and eventually loss of mobility. Males are more commonly affected than females due to the location of the gene on the X chromosome.

Research on the TULP1 gene has included studies on its expression in various tissues, including the brain, retina, and kidney. These studies have shown that the gene is widely expressed in many tissues and plays a role in the development and maintenance of neural cells. Further research is needed to fully understand the function of the TULP1 gene and its role in the development of Hereditary Spastic Paraplegia Type 4.