WDR1 WD repeat domain 1
Gene ID: 9948, updated on 3-Nov-2024Gene type: protein coding
Also known as: AIP1; PFITS; NORI-1; HEL-S-52
- See all available tests in GTR for this gene
- Go to complete Gene record for WDR1
- Go to Variation Viewer for WDR1 variants
Summary
This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. GeneReviews: Not available | |
| Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available | |
| Genome-wide association analysis of age at onset in schizophrenia in a European-American sample GeneReviews: Not available | |
| Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. GeneReviews: Not available | |
| Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. GeneReviews: Not available | |
| Lazy leukocyte syndrome | See labs |
Genomic context
- Location:
- 4p16.1
- Sequence:
- Chromosome: 4; NC_000004.12 (10074339..10116799, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WDR1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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