LOXHD1 (lipoxygenase homology PLAT domains 1)

2014-11-01  

Identity

HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
DFNB77,LH2D1
FUSION GENES

Other Information

Locus ID:

NCBI: 125336
MIM: 613072
HGNC: 26521
Ensembl: ENSG00000167210

Variants:

dbSNP: 125336
ClinVar: 125336
TCGA: ENSG00000167210
COSMIC: LOXHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167210ENST00000300591Q8IVV2
ENSG00000167210ENST00000398686Q8IVV2
ENSG00000167210ENST00000398705Q8IVV2
ENSG00000167210ENST00000414184C9J269
ENSG00000167210ENST00000419859C9IYQ1
ENSG00000167210ENST00000441551Q8IVV2
ENSG00000167210ENST00000452425C9JMG7
ENSG00000167210ENST00000536111F5GXP0
ENSG00000167210ENST00000536736F5GZB4
ENSG00000167210ENST00000579038J3QKX9
ENSG00000167210ENST00000582408J3KRE7
ENSG00000167210ENST00000642948A0A2R8Y7K4

Expression (GTEx)

0
5
10
15
20

References

Pubmed IDYearTitleCitations
223419732012Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
197328672009Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.51
214656602011A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.13
214656602011A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.13
257926692015Mutations in LOXHD1 gene cause various types and severities of hearing loss.7
269730262016Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.5
296760122018Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.4
315475302019Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.3
271211612016Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.2

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