GLA

GLA
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1R46, 1R47, 3GXN, 3GXP, 3GXT, 3HG2, 3HG3, 3HG4, 3HG5, 3LX9, 3LXA, 3LXB, 3LXC, 3S5Y, 3S5Z, 3TV8, 4NXS
Dynodwyr
Cyfenwau	GLA, GALA, galactosidase alpha
Dynodwyr allanol	OMIM: 300644 HomoloGene: 90852 GeneCards: GLA
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • hydrolase activity, hydrolyzing O-glycosyl compounds • protein homodimerization activity • hydrolase activity, acting on glycosyl bonds • raffinose alpha-galactosidase activity • GO:0001948, GO:0016582 protein binding • galactoside binding • catalytic activity • signaling receptor binding • hydrolase activity • alpha-galactosidase activity Cydrannau o'r gell • cytoplasm • Golgi apparatus • lysosomal lumen • lysosome • extracellular exosome • extracellular region • azurophil granule lumen Prosesau biolegol • negative regulation of nitric-oxide synthase activity • glycosphingolipid metabolic process • glycosphingolipid catabolic process • negative regulation of nitric oxide biosynthetic process • metabolaeth • oligosaccharide metabolic process • neutrophil degranulation • glycoside catabolic process • glycosylceramide catabolic process • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2717	n/a
Ensembl	ENSG00000102393	n/a
UniProt	P06280	n/a
RefSeq (mRNA)	NM_000169	n/a
RefSeq (protein)	NP_000160	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 GLA yw GLA a elwir hefyd yn Galactosidase alpha (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom X dynol, band Xq22.1.

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 GLA.

• GALA

Llyfryddiaeth

• "Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype. ". Medicine (Baltimore). 2017. PMID 28723748.
• "Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. ". PLoS One. 2017. PMID 28430823.
• "COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers. ". Retina. 2017. PMID 28225726.
• "A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation. ". BMC Neurol. 2017. PMID 28166746.
• "The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.". Mol Genet Metab. 2017. PMID 28087245.