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

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

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

• Ubiquitin
• Ubiquitin-proteasome system
• X-linked spinal muscular atrophy

External links

• UBA1 at NCBI
• UBA1 at Genetics Home Reference