Identity
HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
DFNB77,LH2D1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 125336
MIM: 613072
HGNC: 26521
Ensembl: ENSG00000167210
Variants:
dbSNP: 125336
ClinVar: 125336
TCGA: ENSG00000167210
COSMIC: LOXHD1
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33753533 | 2022 | Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s. | 3 |
| 35705030 | 2022 | Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1. | 5 |
| 33753533 | 2022 | Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s. | 3 |
| 35705030 | 2022 | Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1. | 5 |
| 33892339 | 2021 | Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. | 1 |
| 33892339 | 2021 | Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. | 1 |
| 32149082 | 2020 | Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. | 8 |
| 32149082 | 2020 | Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. | 8 |
| 30760222 | 2019 | Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. | 7 |
| 31547530 | 2019 | Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. | 10 |
| 31709873 | 2019 | A novel LOXHD1 variant in a Chinese couple with hearing loss. | 7 |
| 30760222 | 2019 | Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. | 7 |
| 31547530 | 2019 | Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. | 10 |
| 31709873 | 2019 | A novel LOXHD1 variant in a Chinese couple with hearing loss. | 7 |
| 29676012 | 2018 | Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. | 9 |
Citation
Dessen P
LOXHD1 (lipoxygenase homology PLAT domains 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68555/loxhd1-(lipoxygenase-homology-plat-domains-1)
