Disease relevance of NDUFB9

• Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome [1].
• White B22 serogroup alleles (B*55 and *56) appear to predispose to unfavorable outcome of HIV infection as strongly as some or all B*35 and B*53 alleles [2].
• There was an increased RR for certain HLA subtypes (A24 [9], HLA11, DR11 [5], B22) in patients presenting with intestinal obstruction due to adhesions [3].

High impact information on NDUFB9

• A diverse group of inhibitory receptors, including FcgammaRII, killer cell inhibitory receptors, and B22, shares an immunoreceptor tyrosine-based inhibition motif (ITIM) [4].
• Among HLA class I genes, A29 (p = 0.001) and B22 (p < 0.0001) are significantly associated with rapid progression, whereas B14 (p = 0.001) and C8 (p = 0.004) are significantly associated with nonprogression [5].
• The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome [6].
• One cDNA clone was found to have 89% sequence similarity to the bovine B22 subunit of NADH-ubiquinone oxidoreductase, a mitochondrial protein in the respiratory electron transport chain [6].
• HLA-B*1586 is a novel, hybrid HLA-B15/B22 allele with unique serology and haplotypic association [7].

Biological context of NDUFB9

• Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13 [1].
• Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear encoded mitochondrial protein with the respiratory electron transport chain [1].
• Here we have determined the genomic structure of the NDUFB9 gene, including the nucleotide sequence, organization and the boundaries of the four coding exons [1].
• Allelic typing of the B22 gene was performed by gene amplification of the polymorphic exons 2 and 3 of the HLA-B genes from 91 B22 positive individuals followed by a hybridization assay using 63 digoxigenin-labelled probes [8].
• Lambda clone B22 contains a 7676 bp genomic fragment of Saccharomyces cerevisiae chromosome VII spanning the VAM7-SPM2 intergenic region and containing three novel transcribed open reading frames [9].

Associations of NDUFB9 with chemical compounds

• A strong correlation was found between B22 antigen and feprazone-induced FDE [10].
• HLA-B55 (split of B22) was present exclusively in trimethoprim-sulfamethoxazole-induced FDE, and in higher frequency than in control subjects [10].

Other interactions of NDUFB9

• To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found [1].

Analytical, diagnostic and therapeutic context of NDUFB9

• Six ALP isoforms were separated and quantified by high-performance liquid chromatography: one bone/intestinal, two bone (B1, B22), and three liver ALP isoforms [11].
• It is, however, a prerequisite for protein crystallization that the B22 value must be in the slightly negative regime [12].
• Stainless steel orthodontic wires with cross-sections of .017 x .025 in (W17) and .018 x .025 in (W18), and brackets with slot sizes of .018 in (B18) and .022 in (B22) were used [13].

References