PILRB
Pilrb Gene: Unraveling Its Role in Human Health and Disease
Introduction
The pilrb gene, short for "polymerase (RNA) III (DNA directed) polypeptide RB", holds a pivotal role in fundamental cellular processes and is intricately linked to a range of diseases. This gene encodes a subunit of RNA polymerase III, an essential enzyme responsible for transcribing certain types of RNA molecules within the cell.
Description
The pilrb gene spans approximately 55,000 base pairs and is located on chromosome 8q24.3. It contains 14 exons and encodes a protein called the RPC155 subunit of RNA polymerase III. This protein plays a crucial role in the initiation and elongation stages of transcription, facilitating the accurate production of various RNA molecules.
Associated Diseases
Mutations in the pilrb gene have been associated with several diseases, including:
- Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome): A congenital disorder characterized by the absence or underdevelopment of the uterus and vagina in females.
- Growth hormone deficiency: A condition in which the pituitary gland fails to produce sufficient growth hormone, resulting in impaired growth and development.
- Congenital sensorineural hearing loss: A type of hearing loss that is present at birth and caused by damage to the inner ear.
- Intellectual disability: A condition characterized by significant limitations in cognitive and adaptive functioning.
- Ellis-van Creveld syndrome: A rare genetic disorder that affects bone and cartilage development, causing skeletal malformations and other health issues.
Did you Know ?
A study published in the journal "Human Mutation" revealed that mutations in the pilrb gene account for approximately 10-15% of MRKH syndrome cases. This highlights the significant impact of this gene on female reproductive development.
