Motor Neuron and Pancreas Homeobox Protein 1 (MNX1) ELISA Kit for Human

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]

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: cytoplasm; nucleolus; nucleus

Molecular Function: sequence-specific DNA binding; transcription factor activity

Biological Process: anatomical structure morphogenesis; dorsoventral neural tube patterning; endocrine pancreas development; humoral immune response; motor axon guidance; nerve development; neurite morphogenesis; neuron migration; post-embryonic development; regulation of transcription from RNA polymerase II promoter; spinal cord motor neuron cell fate specification; transcription, DNA-dependent

Disease: Currarino Syndrome