MUT (zinc finger protein)
MUT (zinc finger protein) is a protein that in humans is encoded by the MUT gene. The protein is a member of the zinc finger protein family, which is characterized by the presence of zinc finger domains. These domains are known to play a crucial role in DNA binding and protein-protein interactions.
Function[edit | edit source]
The MUT protein is involved in the metabolism of methylmalonic acid (MMA). It catalyzes the isomerization of MMA to succinic acid. Defects in this gene are the cause of methylmalonic aciduria mut(0) type, a disorder of metabolism characterized by increased levels of MMA in the urine.
Clinical significance[edit | edit source]
Mutations in the MUT gene can lead to methylmalonic acidemia, a disorder that affects the body's ability to break down certain proteins and fats. Symptoms of this disorder can range from mild to life-threatening and can include vomiting, dehydration, hypotonia, developmental delay, intellectual disability, and failure to thrive.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
