CCDC109B
CCDC109B is a protein that in humans is encoded by the CCDC109B gene. The gene is also known as MCUR1 (Mitochondrial Calcium Uniporter Regulator 1). It is a key regulator of the Mitochondrial calcium uniporter complex, a multi-protein complex that mediates mitochondrial Ca2+ uptake.
Function[edit | edit source]
The CCDC109B gene encodes a protein that is a component of the mitochondrial calcium uniporter complex. This complex is responsible for the uptake of Ca2+ ions into the mitochondria. This process is crucial for the regulation of cellular metabolism and signaling pathways. The protein encoded by the CCDC109B gene is known to play a key role in the regulation of this complex.
Clinical significance[edit | edit source]
Mutations in the CCDC109B gene have been associated with various diseases. For instance, a mutation in this gene has been linked to mitochondrial diseases, a group of disorders caused by dysfunctional mitochondria. These diseases can affect any part of the body and can present at any age.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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