NP_001167618.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,917 Da
NCBI Official Full Name
LIM homeobox transcription factor 1-beta isoform 2
NCBI Official Synonym Full Names
LIM homeobox transcription factor 1, beta
NCBI Official Synonym Symbols
NCBI Protein Information
LIM homeobox transcription factor 1-beta; LMX-1.2; LIM/homeobox protein 1.2; LIM/homeobox protein LMX1B
UniProt Protein Name
LIM homeobox transcription factor 1-beta
UniProt Synonym Protein Names
LIM/homeobox protein 1.2; LMX-1.2; LIM/homeobox protein LMX1B
UniProt Synonym Gene Names
UniProt Entry Name
LMX1B_HUMAN
NCBI Summary for LMX1B
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
UniProt Comments for LMX1B
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.
Protein type: Cell development/differentiation; Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 9q33.3
Cellular Component: nucleus
Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding; transcription factor activity
Biological Process: neuron differentiation; organ growth; cell proliferation; collagen fibril organization; transcription, DNA-dependent; regulation of transcription, DNA-dependent; dorsal/ventral pattern formation; in utero embryonic development; multicellular organismal development; midbrain development; neuron migration; cerebellum morphogenesis; positive regulation of transcription from RNA polymerase II promoter; limb morphogenesis; central nervous system neuron development
Disease: Nail-patella Syndrome
Research Articles on LMX1B
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Products associated with anti-LMX1B antibody
Pathways associated with anti-LMX1B antibody
Diseases associated with anti-LMX1B antibody
Organs/Tissues associated with anti-LMX1B antibody
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