BLVRA
Description
The BLVRA gene, provides instructions for producing the enzyme delta-aminolevulinate synthase 1 (ALAS1). This enzyme plays a critical role in the first step of heme synthesis, a vital molecule for red blood cell function and oxygen transport. Heme is essential for the proper functioning of various proteins, including hemoglobin, myoglobin, and cytochromes. Mutations in the BLVRA gene can lead to a deficiency in ALAS1 activity, disrupting heme production and causing a range of health issues.
Associated Diseases
- X-linked sideroblastic anemia (XLSA): A rare, inherited blood disorder characterized by ineffective red blood cell production due to impaired heme synthesis.
- Acute intermittent porphyria (AIP): An inherited metabolic disorder that leads to the accumulation of porphyrin precursors in the body, resulting in neurological and gastrointestinal symptoms.
Did you know?
Mutations in the BLVRA gene can be caused by a variety of factors, including exposure to certain environmental toxins, such as lead.
