Mouse anti-Human/Mouse/Rat sapiens (Human) GPHN Monoclonal Antibody

Function

Also has a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released

Subcellular Location

Postsynaptic cell membrane (Lipid-anchor); Cell membrane (Lipid-anchor); Cytoplasm, cytosol; Cytoplasm, cytoskeleton; Cell projection, dendrite; Postsynaptic density

Disease Association

Molybdenum cofactor deficiency, type C (MOCODC) : A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Homotrimer, homodimer and homooligomer (PubMed:26613940). Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity). Interacts with GABRA3 (PubMed:26613940). Interacts with GLRB (PubMed:12684523, PubMed:26613940). GABRA3 and GLRB occupy overlapping binding sites (By similarity). Interacts with ARHGAP32; IQSEC3, INSYN1 and INSYN2A (By similarity)

Pathway

Cofactor biosynthesis; molybdopterin biosynthesis

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• Reiss J. et al. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. — Am. J. Hum. Genet. (2001)
• David-Watine B. et al. The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. — Gene (2001)
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