CTSA

CTSA
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1IVY, 3BP4, 3BP7, 3BXN, 4AZ0, 4AZ3, 4CI9, 4CIA, 4CIB, 4MWS, 4MWT
Dynodwyr
Cyfenwau	CTSA, GLB2, GSL, NGBE, PPCA, PPGB, cathepsin A
Dynodwyr allanol	OMIM: 613111 HomoloGene: 80163 GeneCards: CTSA
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0070122 peptidase activity • carboxypeptidase activity • GO:0010577 enzyme activator activity • hydrolase activity • exo-alpha-sialidase activity • serine-type carboxypeptidase activity Cydrannau o'r gell • bilen • intracellular membrane-bounded organelle • nucleoplasm • lysosomal lumen • Reticwlwm endoplasmig • lysosome • lumenal side of lysosomal membrane • extracellular exosome • extracellular region • azurophil granule lumen Prosesau biolegol • regulation of protein stability • glycosphingolipid metabolic process • proteolysis • regulation of chaperone-mediated autophagy • proteolysis involved in cellular protein catabolic process • intracellular protein transport • GO:0048554 positive regulation of catalytic activity • neutrophil degranulation • negative regulation of chaperone-mediated autophagy Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5476	n/a
Ensembl	ENSG00000064601	n/a
UniProt	P10619	n/a
RefSeq (mRNA)	NM_001167594 NM_000308 NM_001127695	n/a
RefSeq (protein)	NP_000299 NP_001121167 NP_001161066	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 CTSA yw CTSA a elwir hefyd yn Cathepsin A (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 20, band 20q13.12.

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 CTSA.

• GSL
• GLB2
• NGBE
• PPCA
• PPGB

Llyfryddiaeth

• "Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts. ". Brain Dev. 2016. PMID 26259553.
• "A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination. ". Pediatr Dev Pathol. 2014. PMID 25075748.
• "Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. ". Eur J Med Genet. 2014. PMID 24769197.
• "Lysosomal multienzyme complex: pros and cons of working together. ". Cell Mol Life Sci. 2014. PMID 24337808.
• "Galactosialidosis: review and analysis of CTSA gene mutations.". Orphanet J Rare Dis. 2013. PMID 23915561.