MNX1
Function
Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity, in concert with LIM domain transcription factor LMO4 (By similarity). Involved in negatively modulating transcription of interneuron genes in motor neurons, acting, at least in part, by blocking regulatory sequence interactions of the ISL1-LHX3 complex (By similarity). Involved in pancreas development and function; may play a role in pancreatic cell fate specification (By similarity).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in lymphoid and pancreatic tissues.
Cellular localization
- Nucleus
Alternative names
HLXB9, MNX1, Motor neuron and pancreas homeobox protein 1, Homeobox protein HB9