UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1
Gene ID: 55245, updated on 7-Apr-2024Gene type: protein coding
Also known as: BFZB; CBP3; UQCC; C20orf44
- See all available tests in GTR for this gene
- Go to complete Gene record for UQCC1
- Go to Variation Viewer for UQCC1 variants
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. [provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. GeneReviews: Not available | |
| Common variants in the GDF5-UQCC region are associated with variation in human height. GeneReviews: Not available | |
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Genome-wide association study identified UQCC locus for spine bone size in humans. GeneReviews: Not available | |
| Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. GeneReviews: Not available |
Genomic context
- Location:
- 20q11.22
- Sequence:
- Chromosome: 20; NC_000020.11 (35302578..35411973, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UQCC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UQCC1 database
- Variation ViewerRelated Variants
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