UBA1
UBA1 is a gene that encodes a protein in humans. This protein is a part of the ubiquitin-activating enzyme family, which plays a crucial role in the ubiquitin-proteasome system.
Function[edit | edit source]
The UBA1 gene encodes a protein that is involved in the first step of the ubiquitin-proteasome pathway. This pathway is responsible for the degradation of intracellular proteins. The protein encoded by the UBA1 gene activates ubiquitin, a small protein that is attached to proteins destined for degradation. This activation process involves the formation of a high-energy bond between the C-terminal glycine of ubiquitin and a cysteine residue on the ubiquitin-activating enzyme.
Clinical significance[edit | edit source]
Mutations in the UBA1 gene have been associated with X-linked spinal muscular atrophy type 2 (XL-SMA2), a rare neuromuscular disorder. This disorder is characterized by muscle weakness and atrophy, and it primarily affects males.
See also[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
