rs587777839

This is a variant in the XAB2 gene that changes a methionine to an isoleucine.

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ClinVar annotation

Pathogenic★★★☆
6 submitters5 publications

Mitochondrial complex 4 deficiency, nuclear type 12; Mitochondrial complex IV deficiency, nuclear type 1; PET100-related disorder

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About XAB2

Involved in DNA-templated transcription; mRNA splicing, via spliceosome; and transcription-coupled nucleotide-excision repair. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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