DISEASES

Disease-gene associations mined from literature

Literature associating GPHN and hereditary spastic paraplegia 24

GPHN [ENSP00000417901]

Gephyrin; Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. 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; In the C-terminal section; belongs to the MoeA family.

Synonyms:  GPHN,  F5H039,  G3V355,  G3V4D2,  G3V4R0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM