GLRB

GLRB
Dynodwyr
Cyfenwau	GLRB, HKPX2, glycine receptor beta
Dynodwyr allanol	OMIM: 138492 HomoloGene: 20224 GeneCards: GLRB
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • glycine binding • GO:0001948, GO:0016582 protein binding • extracellularly glycine-gated ion channel activity • chloride channel activity • extracellular ligand-gated ion channel activity • extracellularly glycine-gated chloride channel activity • ion channel activity • transmembrane signaling receptor activity • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cydrannau o'r gell • cytoplasm • integral component of membrane • postsynaptic membrane • cell projection • bilen • synapse • chloride channel complex • glycine-gated chloride channel complex • cell junction • dendrite • integral component of plasma membrane • Cellbilen • GABA-ergic synapse • glycinergic synapse • neuron projection Prosesau biolegol • response to amino acid • startle response • protein heterooligomerization • regulation of membrane potential • gamma-aminobutyric acid receptor clustering • chloride transmembrane transport • nervous system development • acrosome reaction • neuromuscular process • righting reflex • chloride transport • neuropeptide signaling pathway • golwg • adult walking behavior • cludo ïon • synaptic transmission, glycinergic • excitatory postsynaptic potential • chemical synaptic transmission • cludo transmembrane rhwng ïonau • GO:0072468 signal transduction • nervous system process • regulation of postsynaptic membrane potential Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2743	n/a
Ensembl	ENSG00000109738	n/a
UniProt	P48167	n/a
RefSeq (mRNA)	NM_000824 NM_001166060 NM_001166061	n/a
RefSeq (protein)	NP_000815 NP_001159532 NP_001159533	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn GLRB yw GLRB a elwir hefyd yn Glycine receptor beta (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 4, band 4q32.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn GLRB.

• HKPX2

Llyfryddiaeth

• "Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. ". Neurobiol Dis. 2013. PMID 23238346.
• "GLRB is the third major gene of effect in hyperekplexia. ". Hum Mol Genet. 2013. PMID 23184146.
• "A 14-year-old girl with hyperekplexia having GLRB mutations. ". Brain Dev. 2013. PMID 23182654.
• "Distinct properties of glycine receptor β+/α- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein. ". J Biol Chem. 2012. PMID 22535951.
• "Novel mutation in GLRB in a large family with hereditary hyperekplexia.". Clin Genet. 2012. PMID 21391991.