Symbol: Name: ID: |
GPHN gephyrin GFS:4674 |
Gene name: | GPHN |
Chromosome: | 14q23.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | KIAA1385 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:109602 | Rat Genome Database ID: | RGD:69194 |
HGNC ID: | HGNC:15465 | RefSeq IDs: | NM_001024218 |
Entrez Gene ID: | 10243 | Ensembl Gene ID: | ENSG00000171723 |
VEGA IDs: | OTTHUMG00000029785 | UniProt ID: | Q9NQX3 |
UCSC ID: | uc001xix.2 | OMIM ID: | 603930 |
Pubmed: | PMID1319186 PMID 10325225 PMID 18403029 | ||
CCDS IDs: | CCDSCCDS9777.1 CCDS CCDS32103.1 |
GPHN (sometimes GEPH) is a human gene that encodes the protein gephyrin.
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 hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008].
Function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). 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.
Products for GPHN gene
Catalog | Product Name | Application | Company |
GFS:E04674 | gephyrin; ELISA kit | ELISA | n/a |
GFS:A04674 | gephyrin; Anti | ANTIBODIES | n/a |
GFS:P04674 | gephyrin; Protien | Protien | n/a |