CFAP52 cilia and flagella associated protein 52
Gene ID: 146845, updated on 17-Jun-2024Gene type: protein coding
Also known as: HTX10; WDR16; WDRPUH
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- Go to complete Gene record for CFAP52
- Go to Variation Viewer for CFAP52 variants
Summary
WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Heterotaxy, visceral, 10, autosomal, with male infertility | not available |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (9576642..9645554)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CFAP52 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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