KRT12 keratin 12
Gene ID: 3859, updated on 7-Apr-2024Gene type: protein coding
Also known as: K12; MECD1
- See all available tests in GTR for this gene
- Go to complete Gene record for KRT12
- Go to Variation Viewer for KRT12 variants
Summary
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Corneal dystrophy, Meesmann, 1 | See labs |
Genomic context
- Location:
- 17q21.2
- Sequence:
- Chromosome: 17; NC_000017.11 (40861303..40867223, 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 KRT12 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 KRT12
- KRT12 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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