LHX1

Chr 17

LIM homeobox 1

Also known as: LIM-1, LIM1

NCBI Gene: 3975 ENSG00000273706 UniProt: P48742 OMIM: 601999

LHX1 encodes a LIM domain-containing transcription factor that is important for development of the renal and urogenital systems, as well as early mesoderm formation and neurogenesis. Mutations cause Mayer-Rokitansky-Kuster-Hauser syndrome, characterized by anomalies in the female genital tract. The gene shows low constraint against loss-of-function variants (pLI 0.03, LOEUF 0.74), and inheritance pattern information requires further clinical correlation.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.74

LOEUF

Mechanism· predicted

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GeneReview available — LHX1