LOXHD1
Lipoxygenase Homology Domains 1
Gene Information Card
| Symbol | LOXHD1 |
|---|---|
| Full Name | Lipoxygenase Homology Domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 125336 ncbi.nlm.nih.gov/gene/125336 |
| Ensembl ID | ENSG00000167210 |
| UniProt ID | Q8IVV2 |
| OMIM ID | 613072 |
| HGNC ID | 26521 |
| Aliases | FLJ32670, DFNB77, DFNA77 |
Description
LOXHD1 encodes a protein containing multiple lipoxygenase homology domains, which is expressed in hair cells of the inner ear and is essential for mechanotransduction. Mutations in LOXHD1 cause autosomal recessive nonsyndromic hearing loss (DFNB77) and autosomal dominant nonsyndromic hearing loss (DFNA77).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic hearing loss, autosomal recessive (DFNB77) | Loss-of-function mutations disrupt hair cell function | ClinVar, OMIM |
| Nonsyndromic hearing loss, autosomal dominant (DFNA77) | Dominant-negative or gain-of-function effects | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High |
| Testis | Not available | Medium |
| Lung | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Not available |
| HeLa | Not available | Not available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4714C>T (p.Arg1572*) | Nonsense | Rare | Loss of function |
| c.986G>A (p.Arg329His) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause DFNB77
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Missense mutations may cause DFNA77 via dominant-negative mechanism
View complete mutation data：
Protein Summary
LOXHD1 is a protein with 15 lipoxygenase homology domains, localized to the stereocilia of inner ear hair cells. It is involved in maintaining hair bundle structure and mechanotransduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LOXHD1 Knockout HEK293 Cell Line | EDJ-KQ8786 | Human | 125336 | Details Get a Quote |
| LOXHD1 Knockout HeLa Cell Line | EDJ-KQ58153 | Human | 125336 | Details Get a Quote |
| LOXHD1 Knockout A-549 Cell Line | EDJ-KQ66636 | Human | 125336 | Details Get a Quote |
| LOXHD1 Knockout HCT 116 Cell Line | EDJ-KQ75057 | Human | 125336 | Details Get a Quote |
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