CABP2
Description
The CABP2 gene, also known as calbindin 2, encodes a protein that plays a critical role in regulating intracellular calcium levels. This protein acts as a calcium-binding messenger, influencing various cellular processes, including muscle contraction, neuronal function, and cell growth. Its primary function is to buffer calcium ions, preventing excessive fluctuations and ensuring proper signal transduction. CABP2 is expressed in various tissues, particularly in the brain, heart, and skeletal muscle, highlighting its broad physiological importance.
Associated Diseases
Did you know?
Mutations in the CABP2 gene have been linked to a rare genetic disorder called "familial hypocalciuric hypercalcemia", characterized by high blood calcium levels despite low urinary calcium excretion.
