LHFPL5

lipoma HMGIC fusion partner-like 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

From UniProt:

In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 67

From UniProt:

Deafness, autosomal recessive, 67 (DFNB67): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:610265]

Cytogenetic Location: 6p21.31, which is the short (p) arm of chromosome 6 at position 21.31

Molecular Location: base pairs 35,805,294 to 35,824,075 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.31, which is the short (p) arm of chromosome 6 at position 21.31
  • DFNB67
  • dJ510O8.8
  • TMHS