NP_001158727.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
motor neuron and pancreas homeobox protein 1 isoform 2
NCBI Official Synonym Full Names
motor neuron and pancreas homeobox 1
NCBI Protein Information
motor neuron and pancreas homeobox protein 1
UniProt Protein Name
Motor neuron and pancreas homeobox protein 1
UniProt Synonym Protein Names
Homeobox protein HB9
UniProt Synonym Gene Names
UniProt Entry Name
MNX1_HUMAN
NCBI Summary for MNX1
This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
UniProt Comments for MNX1
MNX1: Putative transcription factor involved in pancreas development and function. Defects in MNX1 are a cause of Currarino syndrome (CURRAS). The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 7q36
Cellular Component: nucleus
Molecular Function: sequence-specific DNA binding; transcription factor activity
Biological Process: regulation of transcription from RNA polymerase II promoter; anatomical structure morphogenesis; transcription, DNA-dependent; spinal cord motor neuron cell fate specification; neuron migration; nerve development; motor axon guidance; endocrine pancreas development; humoral immune response; dorsoventral neural tube patterning; post-embryonic development
Disease: Currarino Syndrome
Product References and Citations for anti-MNX1 antibody
Turgut, M. Acta Neurochir (Wien) 152(6):1083-1084(2010) Garcia-Barcelo, M.M., et al. J. Pediatr. Surg. 44(10):1892-1898(2009) Park, J., et al. Cancer Genet. Cytogenet. 191(2):102-105(2009) Ballabio, E., et al. Leukemia 23(6):1179-1182(2009) Taketani, T., et al. Cancer Genet. Cytogenet. 186(2):115-119(2008)
Research Articles on MNX1
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Products associated with anti-MNX1 antibody
Pathways associated with anti-MNX1 antibody
Diseases associated with anti-MNX1 antibody
Organs/Tissues associated with anti-MNX1 antibody
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