APCDD1 APC down-regulated 1
Gene ID: 147495, updated on 4-Jan-2025Gene type: protein coding
Also known as: HHS; HTS; B7323; HYPT1; DRAPC1; FP7019
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- Go to complete Gene record for APCDD1
- Go to Variation Viewer for APCDD1 variants
Summary
This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. GeneReviews: Not available | |
| Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. GeneReviews: Not available | |
| Hypotrichosis 1 | See labs |
| The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. GeneReviews: Not available |
Genomic context
- Location:
- 18p11.22
- Sequence:
- Chromosome: 18; NC_000018.10 (10454635..10489949)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APCDD1 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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