UBA1: Difference between revisions
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== Clinical significance == | == 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. | 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 == | == See also == | ||
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* [[Ubiquitin-proteasome system]] | * [[Ubiquitin-proteasome system]] | ||
* [[X-linked spinal muscular atrophy]] | * [[X-linked spinal muscular atrophy]] | ||
== External links == | == External links == | ||
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{{Ubiquitin-proteasome system}} | {{Ubiquitin-proteasome system}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
[[Category:Genes on human chromosome X]] | [[Category:Genes on human chromosome X]] | ||
[[Category:EC 6.2.1]] | [[Category:EC 6.2.1]] | ||
[[Category:Ubiquitin-proteasome system]] | [[Category:Ubiquitin-proteasome system]] | ||
Latest revision as of 16:21, 19 November 2024
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]
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]
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]
External links[edit]
| Genes on human chromosome X | ||||||
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This human genetics related article is a stub.
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| Ubiquitin-proteasome system | ||||||||||
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This Ubiquitin-proteasome system related article is a stub.
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