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LOXHD1

Chr 18q21.1

lipoxygenase homology PLAT domains 1

Aliases:
FLJ32670, LH2D1
MANE:
ENST00000642948.1
OMIM: 613072 ↗NCBI: 125336 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.71

  • nonsyndromic genetic hearing loss

    0.63

  • deafness

    0.63

  • Rare genetic deafness

    0.54

  • Hearing impairment

    0.49

  • hereditary disease

    0.42

  • Non-syndromic genetic deafness

    0.39

  • neurodegenerative disease

    0.37

  • presbycusis

    0.34

  • disorder of ear

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lipoxygenase homology domain-containing protein 1

Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity)

Diseases associated with LOXHD1

Curated MONDO disease pages that list LOXHD1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.