LOXHD1 (lipoxygenase homology PLAT domains 1)

2014-11-01  

Identity

HGNC
LOXHD1
LOCATION
18q21.1
LOCUSID
125336
ALIAS
DFNB77,LH2D1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
337535332022Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.3
357050302022Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.5
337535332022Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.3
357050302022Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.5
338923392021Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.1
338923392021Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.1
321490822020Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.8
321490822020Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.8
307602222019Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.7
315475302019Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.10
317098732019A novel LOXHD1 variant in a Chinese couple with hearing loss.7
307602222019Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.7
315475302019Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.10
317098732019A novel LOXHD1 variant in a Chinese couple with hearing loss.7
296760122018Further 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)