Gene: LBHD1

Alternate names for this Gene: C11orf48

Gene Summary: This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: LBH domain containing 1

Type of Gene: protein-coding

Gene: UQCC3

Alternate names for this Gene: C11orf83|CCDS41658.1|MC3DN9|UNQ655

Gene Summary: Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: ubiquinol-cytochrome c reductase complex assembly factor 3

Type of Gene: protein-coding

rs693698 in LBHD1;UQCC3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs606231426 in LBHD1;UQCC3 gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 PMID 25008109 2014 A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.