Pax3
One in a family of Pax genes involved in regulating embryonic development at the level of transcription. The Pax3 gene is on chromosome 2 in band q35. It encodes a DNA-binding transcription factor that is expressed in the early embryo.
Mutation of Pax3 leads to Waardenburg syndrome with a wide bridge of the nose; pigmentary disturbances such as two different colored eyes, white forelock and eyelashes and premature graying of the hair; and some degree of nerve deafness.
The syndrome is named for a Dutch eye doctor named Petrus Johannes Waardenburg (1886-1979) who first noticed that people with differently colored eyes often had a hearing impairment. Pax3 is also known as WS1 (for Waardenberg syndrome I).
Read Also:
- PC
Although PC is usually taken to mean personal computer, in the biomedical arena PC also stands for protein C, phosphocreatine, et al.
- PCA
Commonly used abbreviation for patient-controlled analgesia. Analgesia simply means relief of pain. PCA is a method by which the patient controls the amount of pain medicine (analgesia) they receive. There are a number of different PCA systems. In the classic PCA system, the patient receives a preset dose of morphine by pressing a button on […]
- PCBs
Action Levels for Poisonous or Deleterious Substances in Human Food and Animal Feed.
- PCL (posterior cruciate ligament)
The knee is a joint which has three parts. The thigh bone (femur) meets the large shin bone (tibia) forming the main knee joint. This joint has an inner (medial) and an outer (lateral) compartment. The kneecap (patella) and the femur form a third joint, called the patellofemoral joint. The meniscus is a c-shaped cartilage […]
- PCO
Polycystic ovarian syndrome.