LHFPL4 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 one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
LHFPL4
Official Name
LHFPL tetraspan subfamily member 4 [Source:HGNC Symbol;Acc:HGNC:29568]
Ensembl ID
ENSG00000156959
Bio databases IDs NCBI: 375323 Ensembl: ENSG00000156959
Aliases LHFPL tetraspan subfamily member 4, GABAA receptor regulatory Lhfpl4
Synonyms 1190004M23RIK, B230384L07, GARLH4, LHFPL tetraspan subfamily member 4, lipoma HMGIC fusion partner-like protein 4, mKIAA4027
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 LHFPL4 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
  • receptor 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
  • rotator cuff injury
role in cell
  • assembly

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
  • organelle
  • postsynaptic membrane
  • synapse

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human LHFPL4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sensory perception of sound
  • gamma-aminobutyric acid receptor clustering

Cellular Component

Where in the cell the gene product is active
  • inhibitory synapse
  • dendrite
  • postsynaptic membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • GABA receptor binding

Gene-Specific Assays for Results You Can Trust

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