MNX1 Antibody – Rabbit Polyclonal

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: 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; dorsoventral neural tube patterning; humoral immune response; post-embryonic development

Disease: Currarino Syndrome