LHFPL5 Gene Summary [Human]
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LHFPL5 |
| Official Name | LHFPL tetraspan subfamily member 5 [Source:HGNC Symbol;Acc:HGNC:21253] |
| Ensembl ID | ENSG00000197753 |
| Bio databases IDs | |
| Aliases | LHFPL tetraspan subfamily member 5, tetraspan membrane protein of hair cell stereocilia |
| Synonyms | 9330179O15Rik, DFNB67, dJ510O8.8, hscy, LHFPL tetraspan subfamily member 5, lipoma HMGIC fusion partner-like 5, MGC33835, TMHS |
| 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 LHFPL5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Lipoma HMGIC fusion partner-like protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness type 67
- insulin-dependent diabetes mellitus
- hearing loss
- autosomal recessive deafness
- familial nonsyndromic hearing impairment
- ear malformation
regulates
role in cell
- stabilization 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.
- Plasma Membrane
- stereocilia
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LHFPL5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- auditory receptor cell stereocilium organization
- ion transport
- detection of mechanical stimulus involved in sensory perception of sound
- detection of mechanical stimulus involved in sensory perception
Cellular Component
Where in the cell the gene product is active
- stereocilium bundle tip
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding