LHFP-Like Protein 5

Alternative Names

  • LHFPL5
  • Tetraspan Membrane Protein of Hair Cell Stereocilia
  • TMHS
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OMIM Number

609427

NCBI Gene ID

222662

Uniprot ID

Q8TAF8

Length

48,192 bases

No. of Exons

4

No. of isoforms

1

Protein Name

LHFPL Tetraspan Subfamily Member 5 Protein

Molecular Mass

24201 Da

Amino Acid Count

219

Genomic Location

chr6:35,805,351-35,824,069

Gene Map Locus
6p21.31

Description

The protein encoded by LHFPL5 is a member of a superfamily of tetraspan proteins, which includes the claudin tight junction proteins, gap junction proteins, peripheral myelin, and epithelial membrane proteins as well as calcium channel-like proteins. Several genes of this superfamily have been reported to be necessary for hearing in either humans or mice, or both. LHFPL5 is expressed transiently in inner ear hair cell stereociliary bundles. This finding is suggestive that LHFPL5 is essential for normal function of the human cochlea.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_182548.4:c.1A>GPalestinechr6:35805671PathogenicPathogenicDeafness, Autosomal Recessive 67NG_012184.2:g.5378A>G; NM_182548.4:c.1A>G; NP_872354.1:p.Met1Val1060499810402282
NM_182548.4:c.472C>TUnited Arab Emirates; ...NC_000006.12:g.35814605C>TUncertain SignificanceLikely PathogenicDeafness, Autosomal Recessive 67NG_012184.1:g.14312C>T; NM_182548.4:c.472C>T; NP_872354.1:p.Arg158Trp753739358505548

Other Reports

Tunisia

Bensaid et al. (2011) checked whether DFNB66 and DFNB67 are distinctive loci by analyzing the 6-generation consanguineous Tunisian family that was identified to have DFNB66. In the DFNB66 family, sequencing showed absence of mutations in the untranslated regions and the predicted promoter sequence of LHFPL5. However, analysis of five microsatellites in the 6p21.31-22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis in DHPLC revealed a novel mutation (c.89dup; p.T31YfsX41) in one out of 129 unrelated Tunisian families with autosomal recessive non-syndromic hearing loss. Bensaid et al. (2011) suggested that two distinct genes are probably responsible for DFNB66 and DFNB67 hearing loss.

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