QuickView for TMHs (gene)

Gene Symbol:

LHFPL5 Homo sapiens

Full name:

LHFPL tetraspan subfamily member 5

Synonyms:

DFNB67, TMHS, dJ510O8.8, LHFPL tetraspan subfamily member 5 protein, LHFP-like protein 5, lipoma HMGIC fusion partner-like 5 protein, tetraspan membrane protein of hair cell stereocilia

Genomic Location:

Chr 6: 35881049-35899830

Description:

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 Cor...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NRSF_01

Cytogenetic Map:

6p21.31

search → result