NCIt definition : Human GPHN wild-type allele is located in the vicinity of 14q23.3 and is approximately
674 kb in length. This allele, which encodes gephyrin protein, plays a role in both
protein-cytoskeleton interactions and biosynthesis of the molybdenum cofactor. Mutation
of the gene is associated with both molybdenum cofactor deficiency type C and startle
disease. A chromosomal translocation t(11;14)(q23;q23) of this gene and the MLL gene
is involved in acute myeloid leukemia.;