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Center for Nephrology and Metabolic Disorders
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LIM/homeobox protein Lhx3

The LHX3 gene encodes a transcription factor that is required for pituitary development. Mutations in this gene cause autosomal recessive combined pituitary hormone deficiency 3.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pituitary hormone deficiency type 3



Freyd G et al. (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.

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Rajab A et al. (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

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Pfaeffle RW et al. (2007) Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

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Bhangoo AP et al. (2006) Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.

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Lee SK et al. (2003) Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors.

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Thaler JP et al. (2002) LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions.

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Sharma K et al. (2000) Genetic and epigenetic mechanisms contribute to motor neuron pathfinding.

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Netchine I et al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

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Sloop KW et al. (2000) Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9.

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Sloop KW et al. (1999) Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.

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Sharma K et al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.

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Sheng HZ et al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.

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Mbikay M et al. (1995) Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.

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Zhadanov AB et al. (1995) Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3.

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Zhadanov AB et al. (1995) Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues.

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Tsuchida T et al. (1994) Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.

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Way JC et al. (1988) mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans.

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Sloop KW et al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.

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Orphanet article

Orphanet ID 123053 external link

NCBI article

NCBI 8022 external link

OMIM.ORG article

Omim 600577 external link

Wikipedia article

Wikipedia EN (LHX3) external link
Update: Aug. 14, 2020
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