P4HTM

P4HTM is a human gene that encodes for the protein Prolyl 4-Hydroxylase, Transmembrane (P4HTM). This protein is a member of the prolyl 4-hydroxylase family and is located in the endoplasmic reticulum of cells.

Function

The P4HTM protein is involved in the hydroxylation of proline residues in certain proteins, which is a key step in the formation of collagen molecules. This process is crucial for the proper functioning of connective tissues. Mutations in this gene have been associated with various diseases, including osteogenesis imperfecta and Ehlers-Danlos syndrome.

Structure

The P4HTM protein is a type II transmembrane protein, meaning it has a single transmembrane domain and its N-terminus is located in the cytoplasm. The protein's active site, which carries out the hydroxylation reaction, is located in the lumen of the endoplasmic reticulum.

Clinical significance

Research has suggested that P4HTM may play a role in cancer progression. In particular, it has been found to be overexpressed in certain types of breast cancer and lung cancer, and its expression level has been correlated with tumor grade and prognosis.

See also

• Prolyl hydroxylase
• Collagen
• Osteogenesis imperfecta
• Ehlers-Danlos syndrome