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

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

rs1885041 in TMEM229B;GPHN 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.

rs1885041 in TMEM229B;GPHN 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.

rs1555399 in TMEM229B;GPHN gene and Parkinson Disease PMID 25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

rs17104363 in TMEM229B;GPHN gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.