Gephyrin
Sign in to saveAlso known as GPHN
Gephyrin is a protein that in humans is encoded by the GPHN gene.
Protein · UniProt
Gephyrin
- Gene
- GPHN
- Organism
- Homo sapiens (Human)
- Length
- 736 aa
- Molecular mass
- 79,748 Da
- Evidence
- 1: Evidence at protein level
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940)
Swiss-Prot (reviewed) · via UniProt
~6 min read
Encyclopedic overview
10 sectionsContents
- Gene
- Function
- Neuronal structure
- Moco biosynthesis
- Clinical significance
- Yin-yang sequences
- Interactions
- References
- Further reading
- External links
Gephyrin is a protein that in humans is encoded by the GPHN gene.
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperekplexia and also lead to molybdenum cofactor deficiency.
Excerpted from Wikipedia’s “Gephyrin” article, available under the CC BY-SA 4.0 licence.