rs778957097

This variant is located in the UBA5 gene.

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ClinVar annotation

Conflicting Classifications
3 submitters4 publications

not provided; UBA5-related disorder; Developmental and epileptic encephalopathy, 44;Spinocerebellar ataxia, autosomal recessive 24

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About UBA5

This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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