SFTPC

SFTPC
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2YAD
Dynodwyr
Cyfenwau	SFTPC, BRICD6, PSP-C, SFTP2, SMDP2, SP-C, surfactant protein C, SP5
Dynodwyr allanol	OMIM: 178620 HomoloGene: 2271 GeneCards: SFTPC
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • identical protein binding Cydrannau o'r gell • extracellular region • clathrin-coated endocytic vesicle • lamellar granule • endoplasmic reticulum membrane • multivesicular body lumen • extracellular space Prosesau biolegol • respiratory gaseous exchange by respiratory system Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6440	n/a
Ensembl	ENSG00000168484	n/a
UniProt	P11686	n/a
RefSeq (mRNA)	NM_001172357 NM_001172410 NM_003018 NM_001317778 NM_001317779 NM_001317780	n/a
RefSeq (protein)	NP_001165828 NP_001165881 NP_001304707 NP_001304708 NP_001304709 NP_003009	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SFTPC yw SFTPC a elwir hefyd yn Pulmonary surfactant-associated protein C (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 8, band 8p21.3.^[2]

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 SFTPC.

• "Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype. ". Eur J Hum Genet. 2017. PMID 28295039.
• "A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy. ". Pediatr Pulmonol. 2017. PMID 27362365.
• "A novel surfactant protein C L55F mutation associated with interstitial lung disease alters subcellular localization of proSP-C in A549 cells. ". Pediatr Res. 2016. PMID 26375473.
• "Folding and Intramembraneous BRICHOS Binding of the Prosurfactant Protein C Transmembrane Segment. ". J Biol Chem. 2015. PMID 26041777.
• "Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.". Eur J Hum Genet. 2015. PMID 25782673.