Lipoxygenase Homology Domain-Containing 1

Alternative Names

  • LOXHD1
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OMIM Number

613072

NCBI Gene ID

125336

Uniprot ID

Q8IVV2

Length

180,260 bases

No. of Exons

52

No. of isoforms

4

Protein Name

Lipoxygenase homology domain-containing protein 1

Molecular Mass

235677 Da

Amino Acid Count

2067

Genomic Location

chr18:46,476,961-46,657,220

Gene Map Locus
18q21.1

Description

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001384474.1:c.4519G>AUnited Arab EmiratesNC_000018.10:g.46529188C>TUncertain SignificanceUncertain SignificanceNG_016646.2:g.132846G>A; NM_001384474.1:c.4519G>A; NP_001371403.1:p.Glu1507Lys752123459891650
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