OR52H1
OR52H1 is a gene that encodes a protein in the olfactory receptor family. This family is responsible for the detection of odorants in the nose, and is the largest gene family in the human genome. The OR52H1 gene is located on chromosome 11 in humans.
Function[edit | edit source]
The olfactory receptor proteins, such as the one encoded by the OR52H1 gene, are responsible for the detection of odorants. These proteins are located in the cilia of the olfactory sensory neurons, which are located in a small area in the upper part of the nasal epithelium. When an odorant binds to an olfactory receptor, it triggers a signal transduction pathway that results in a nerve impulse being sent to the brain.
Structure[edit | edit source]
The OR52H1 protein is a member of the G protein-coupled receptor (GPCR) family. Like other GPCRs, it has seven transmembrane domains, which are regions of the protein that span the cell membrane. The protein also has an extracellular N-terminus, which is the part of the protein that is located outside the cell, and an intracellular C-terminus, which is the part of the protein that is located inside the cell.
Clinical significance[edit | edit source]
While the exact role of the OR52H1 gene in disease is not yet fully understood, it is thought that mutations in this gene may be associated with certain types of cancer. Further research is needed to fully understand the role of this gene in disease.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD