Identity
HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
DFNB67,TMHS,dJ510O8.8
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: 222662
MIM: 609427
HGNC: 21253
Ensembl: ENSG00000197753
Variants:
dbSNP: 222662
ClinVar: 222662
TCGA: ENSG00000197753
COSMIC: LHFPL5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37837560 | 2024 | Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5. | 0 |
| 37837560 | 2024 | Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5. | 0 |
| 33168709 | 2020 | Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding. | 18 |
| 33168709 | 2020 | Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding. | 18 |
| 30298622 | 2019 | High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. | 1 |
| 30476627 | 2019 | LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss. | 1 |
| 31126177 | 2019 | Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. | 7 |
| 30298622 | 2019 | High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. | 1 |
| 30476627 | 2019 | LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss. | 1 |
| 31126177 | 2019 | Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. | 7 |
| 30177809 | 2018 | Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. | 1 |
| 30177809 | 2018 | Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. | 1 |
| 26437881 | 2016 | Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. | 6 |
| 26964900 | 2016 | Novel function of LHFPL2 in female and male distal reproductive tract development. | 11 |
| 26437881 | 2016 | Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. | 6 |
Citation
Dessen P
LHFPL5 (LHFPL tetraspan subfamily member 5)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56500/lhfpl5-(lhfpl-tetraspan-subfamily-member-5)
