CCHCR1 coiled-coil alpha-helical rod protein 1
Gene ID: 54535, updated on 10-Oct-2024Gene type: protein coding
Also known as: HCR; SBP; pg8; C6orf18
- See all available tests in GTR for this gene
- Go to complete Gene record for CCHCR1
- Go to Variation Viewer for CCHCR1 variants
Summary
This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. GeneReviews: Not available | |
| A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. GeneReviews: Not available | |
| Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. GeneReviews: Not available | |
| Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash. GeneReviews: Not available | |
| GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. GeneReviews: Not available | |
| Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available | |
| Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.33
- Sequence:
- Chromosome: 6; NC_000006.12 (31142439..31158197, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCHCR1 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
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.