Property Summary

NCBI Gene PubMed Count 8
Grant Count 24
R01 Count 19
Funding $3,487,648.35
PubMed Score 90.14
PubTator Score 30.34

Knowledge Summary

Patent

No data available

Gene RIF (5)

PMID Text
26437881 LHFPL5 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss.
21816241 Five microsatellites in the 6p21.31e22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic hearing loss.
19102128 Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies
16459341 These findings establish the importance of TMHS for normal sound transduction in humans.
15905332 The authors present an overview of the LHFP gene family in mouse and humans

AA Sequence

MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGLFSYCVG      1 - 70
NVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATG     71 - 140
LMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDD    141 - 210
YKADGTEEV                                                                 211 - 219
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Text Mined References (11)

PMID Year Title
26437881 2016 Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
25416956 2014 A proteome-scale map of the human interactome network.
21816241 DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
19102128 2008 Unique transgenic animal model for hereditary hearing loss.
16752389 2006 Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
16459341 2006 Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
15905332 2005 A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
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