Property Summary

NCBI Gene PubMed Count 58
Grant Count 70
R01 Count 52
Funding $14,725,382.28
PubMed Score 170.94
PubTator Score 109.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
lung carcinoma 1.100 0.000
psoriasis -1.300 0.000

Synonym

Accession O60663 F8W7W6 O75463 Q5JU95 Q6ISC9
Symbols NPS1
LMX1.2

Gene

Gene RIF (42)

PMID Text
26526610 Lmx1a and Lmx1b expression persists in mature dopaminergic neurons of the substantia nigra pars compacta and the ventral tegmental area. [Review]
25915474 these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons
25898926 38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity.
25380522 A heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with nail patella syndrome, is reported.
24720768 Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events.
24477276 In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes
24056967 LMX1B is a novel oncogene in ovarian cancer pathogenesis.
23687361 this study identified two novel mutations of the LMX1B gene in three unrelated families with autosomaldominant Focal Segmental Glomerulosclerosis and no extrarenal features.
23046462 LMX1B is important in regulating type IV collagen gene expression in the GBM of the developing kidney and also has a likely role in regulating additional genes important in podocyte function and maintenance
21901133 Data report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.
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AA Sequence

MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMR      1 - 70
VNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGC     71 - 140
FCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSG    141 - 210
DDGKDPRRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARR    211 - 280
HQQQQEQQNSQRLGQEVLSSRMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPY    281 - 350
GNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS                      351 - 402
//

Text Mined References (60)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26526610 2015 Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.
25915474 2015 Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease.
25898926 2016 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
25416956 2014 A proteome-scale map of the human interactome network.
25380522 2014 A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
24720768 2014 Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.
24564958 2014 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
24477276 2014 Combined TSC1 and LMX1B mutations in a single patient.
24431302 2014 Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
More...