LHX8

Chr 1

LIM homeobox 8

Also known as: LHX7

NCBI Gene: 431707 ENSG00000162624 UniProt: Q68G74

LHX8 encodes a LIM homeobox transcription factor that regulates neuronal differentiation and tooth morphogenesis. Mutations cause autosomal recessive hypogonadotropic hypogonadism with absent or delayed puberty, and may be associated with dental abnormalities including cleft palate and odontoma formation. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.47), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.47

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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