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Protein Page:
LMX1B (human)

Overview
LMX1B Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. Defects in LMX1B are the cause of nail-patella syndrome (NPS); also known as onychoosteodysplasia. NPS is a disease that cause abnormal skeletal patterning and renal dysplasia. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 9q33.3
Cellular Component: nucleus
Molecular Function: protein binding; transcription factor activity
Biological Process: dorsal/ventral pattern formation; neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent
Disease: Nail-patella Syndrome
Reference #:  O60663 (UniProtKB)
Alt. Names/Synonyms: LIM homeobox transcription factor 1, beta; LIM homeobox transcription factor 1-beta; LIM/homeobox protein 1.2; LIM/homeobox protein LMX1B; LMX-1.2; LMX1.2; LMX1B; MGC138325; MGC142051; NPS1
Gene Symbols: LMX1B
Molecular weight: 44,917 Da
Basal Isoelectric point: 6.22  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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LMX1B

Protein Structure Not Found.


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