LMX1B


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LMX1B

A gene on chromosome 9q33.3 that encodes a member of the LIM-homeodomain family of proteins that acts as a transcription factor, and which is essential for the normal development of dorsal limb structures, glomerular basement membrane, anterior segment of the eye, and dopaminergic and serotonergic neurons.

Molecular pathology
LMX1B mutations cause nail-patella syndrome.
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References in periodicals archive ?
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
Genotype-phenotype studies in nailpatella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
A rare familial case report of nail-patella syndrome
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutation, deletion, and evidence of mosaicism in unaffected parents.
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
Bilateral patellar hypoplasia: beyond the skeletal anomalies
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.
Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy
The gene's link to NPS grew stronger when the researchers realized that the human version of Lmx1b maps to the exact region of chromosome 9 where the syndrome's mutant gene is thought to reside.
Curiously, it takes mutations in both copies of Lmx1b to produce symptoms in mice, although a defect in just one is sufficient to cause NPS in people.
Mice help nail down gene for rare syndrome
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
Comparing whole-genome amplification methods and sources of biological samples for single-nucleotide polymorphism genotyping

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