LHX6 Gene Summary [Human]
This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | LHX6 |
| Official Name | LIM homeobox 6 [Source:HGNC Symbol;Acc:HGNC:21735] |
| Ensembl ID | ENSG00000106852 |
| Bio databases IDs | |
| Aliases | LIM homeobox 6 |
| Synonyms | hLHX6, LHX6.1, LIM homeobox 6, LIM homeobox protein 6 |
| Species | Human, Homo sapiens |
| Orthologies |
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 LHX6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- hemangioma
- angiomatosis
role in cell
- proliferation
- migration
- apoptosis
- phosphorylation in
- number
- activation in
- growth
- differentiation
- abnormal morphology
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cajal bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LHX6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron differentiation
- cerebral cortex GABAergic interneuron migration
- cell maturation
- cerebral cortex radially oriented cell migration
- cerebral cortex tangential migration
- forebrain neuron development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- metal ion binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity