Gene: UQCC1

Alternate names for this Gene: BFZB|C20orf44|CBP3|UQCC

Gene Summary: This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: ubiquinol-cytochrome c reductase complex assembly factor 1

Type of Gene: protein-coding

rs147058474 in UQCC1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.

PMID 18193045 2008 Common variants in the GDF5-UQCC region are associated with variation in human height.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

rs2248393 in UQCC1 gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs1406948 in UQCC1 gene and Height PMID 18193045 2008 Common variants in the GDF5-UQCC region are associated with variation in human height.

PMID 18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.

PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

rs547181612 in UQCC1 gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs547181612 in UQCC1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs1406948 in UQCC1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs1570002 in UQCC1 gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs1570002 in UQCC1 gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs62210588 in UQCC1 gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs1406948 in UQCC1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.