KRT17 keratin 17
Gene ID: 3872, updated on 7-Apr-2024Gene type: protein coding
Also known as: PC; K17; PC2; 39.1; CK-17; PCHC1
- See all available tests in GTR for this gene
- Go to complete Gene record for KRT17
- Go to Variation Viewer for KRT17 variants
Summary
This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pachyonychia congenita 2 | See labs |
| Steatocystoma multiplex | See labs |
Genomic context
- Location:
- 17q21.2
- Sequence:
- Chromosome: 17; NC_000017.11 (41619442..41624575, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KRT17 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Human Intermediate Filament Database KRT17
- KRT17 database
- 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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