Gene: GPHN

Alternate names for this Gene: GEPH|GPH|GPHRYN|HKPX1|MOCODC

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3-q24.1

Description of this Gene: gephyrin

Type of Gene: protein-coding

Gene: TMEM229B

Alternate names for this Gene: C14orf83

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.1

Description of this Gene: transmembrane protein 229B

Type of Gene: protein-coding

rs1077989 in GPHN;TMEM229B gene and Chronic Kidney Diseases PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs1077989 in GPHN;TMEM229B gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs1077989 in GPHN;TMEM229B gene and Phospholipid measurement PMID 22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.