KRT12 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
KRT12
Official Name
keratin 12 [Source:HGNC Symbol;Acc:HGNC:6414]
Ensembl ID
ENSG00000187242
Bio databases IDs NCBI: 3859 Ensembl: ENSG00000187242
Aliases keratin 12, Meesmann corneal dystrophy
Synonyms K12, Ka12, keratin 12, KRT1-12, MECD1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KRT12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Intermediate filament protein

Pathways

Biological processes and signaling networks where the KRT12 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hereditary disorder
  • Meesmann corneal dystrophy type 1
  • Meesmann corneal dystrophy
regulated by
role in cell
  • disruption
  • disruption in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KRT12 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • epithelial cell differentiation
  • morphogenesis of an epithelium
  • visual perception
  • cornea development in camera-type eye
  • intermediate filament organization

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • extracellular vesicular exosome
  • cytosol
  • intermediate filament

Molecular Function

What the gene product does at the molecular level
  • structural molecule activity

Gene-Specific Assays for Results You Can Trust

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