Prab at 16:21, 19 November 2024

2024-11-19T16:21:24Z

← Older revision		Revision as of 16:21, 19 November 2024
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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.

	~~[[File:UBA1 gene location on human chromosome X.png\|thumb\|right\|Location of the UBA1 gene on the X chromosome]]~~

	== See also ==		== See also ==
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	* [[Ubiquitin-proteasome system]]		* [[Ubiquitin-proteasome system]]
	* [[X-linked spinal muscular atrophy]]		* [[X-linked spinal muscular atrophy]]

	~~== References ==~~
	~~<references />~~

	== 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]]

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2024-03-10T06:13:57Z

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'''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.

[[File:UBA1 gene location on human chromosome X.png|thumb|right|Location of the UBA1 gene on the X chromosome]]

== See also ==
* [[Ubiquitin]]
* [[Ubiquitin-proteasome system]]
* [[X-linked spinal muscular atrophy]]

== References ==
<references />

== External links ==
* [https://www.ncbi.nlm.nih.gov/gene/7316 UBA1] at NCBI
* [https://ghr.nlm.nih.gov/gene/UBA1 UBA1] at Genetics Home Reference

{{Genes on human chromosome X}}
{{Ubiquitin-proteasome system}}
{{medicine-stub}}

[[Category:Genes on human chromosome X]]
[[Category:EC 6.2.1]]
[[Category:Ubiquitin-proteasome system]]

UBA1 - Revision history

Prab at 16:21, 19 November 2024

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