rs10908826
This variant is located in the NDUFS2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association betweenADAMTS-4gene polymorphism and lumbar disc degeneration in Chinese Han populationAssociationN=978Sen Liu et al.(2016)· Journal of Orthopaedic Research
This candidate gene association study investigated the association between ADAMTS-4 gene polymorphisms and lumbar disc degeneration (LDD) in 482 Chinese Han cases and 496 healthy controls. rs4233367 (c.1877 C>T), a missense variant in the ADAMTS-4 exon, showed significant association with LDD with the protective T allele conferring an OR of 0.69 (p=1.66×10⁻²). The TT genotype had a markedly lower risk (OR=0.21, p=3.74×10⁻²) compared to CC genotype, suggesting the variant influences ADAMTS-4 catalytic activity through effects on the cysteine-rich domain.
About NDUFS2
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
View all NDUFS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…