LDLR

LDLR
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1AJJ, 1D2J, 1F5Y, 1HJ7, 1HZ8, 1I0U, 1IJQ, 1LDL, 1LDR, 1N7D, 1XFE, 2FCW, 2KRI, 2LGP, 2W2M, 2W2N, 2W2O, 2W2P, 2W2Q, 3BPS, 3GCW, 3GCX, 3M0C, 3SO6, 2M7P, 2MG9, 3P5B, 3P5C, 4NE9
Dynodwyr
Cyfenwau	LDLR, FH, FHC, LDLCQ2, low density lipoprotein receptor, FHCL1
Dynodwyr allanol	OMIM: 606945 HomoloGene: 55469 GeneCards: LDLR
Patrwm RNA pattern
	; ; ; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• calcium ion binding; • clathrin heavy chain binding; • virus receptor activity; • GO:0001948, GO:0016582 protein binding; • protease binding; • identical protein binding; • very-low-density lipoprotein particle receptor activity; • low-density lipoprotein particle receptor activity; • low-density lipoprotein particle binding; • amyloid-beta binding;
Cydrannau o'r gell	• integral component of membrane; • clathrin-coated endocytic vesicle membrane; • endosome; • late endosome; • Golgi apparatus; • bilen; • receptor complex; • Cellbilen; • apical part of cell; • integral component of plasma membrane; • cell surface; • basolateral plasma membrane; • early endosome; • low-density lipoprotein particle; • clathrin-coated pit; • lysosome; • PCSK9-LDLR complex; • endosome membrane; • external side of plasma membrane; • extracellular space; • endolysosome membrane; • sorting endosome; • intracellular anatomical structure; • somatodendritic compartment;
Prosesau biolegol	• positive regulation of triglyceride biosynthetic process; • regulation of phosphatidylcholine catabolic process; • steroid metabolic process; • lipid transport; • endocytosis; • lipid metabolism; • phospholipid transport; • cholesterol transport; • cholesterol metabolic process; • lipoprotein catabolic process; • intestinal cholesterol absorption; • GO:0015915 transport; • viral entry into host cell; • cholesterol homeostasis; • GO:0022415 viral process; • GO:1901313 positive regulation of gene expression; • positive regulation of inflammatory response; • lipoprotein metabolic process; • cellular response to fatty acid; • negative regulation of gene expression; • membrane organization; • cholesterol import; • cellular response to low-density lipoprotein particle stimulus; • receptor-mediated endocytosis involved in cholesterol transport; • chylomicron remnant clearance; • low-density lipoprotein particle clearance; • receptor-mediated endocytosis; • ffagocytosis; • long-term memory; • plasma lipoprotein particle clearance; • high-density lipoprotein particle clearance; • regulation of protein metabolic process; • GO:0032269, GO:0051201 negative regulation of protein metabolic process; • response to caloric restriction; • negative regulation of astrocyte activation; • regulation of cholesterol metabolic process; • amyloid-beta clearance; • amyloid-beta clearance by cellular catabolic process; • negative regulation of microglial cell activation; • positive regulation of lysosomal protein catabolic process; • negative regulation of amyloid fibril formation; • artery morphogenesis;
	Sources:Amigo / QuickGO
Orthologau
	3949
	n/a
	ENSG00000130164
	n/a
	P01130
	n/a
NM_000527; NM_001195798; NM_001195799; NM_001195800; NM_001195802;
	NM_001195803
	n/a
	NP_000518; NP_001182727; NP_001182728; NP_001182729; NP_001182732
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn LDLR yw LDLR a elwir hefyd yn Low density lipoprotein receptor (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 19, band 19p13.2.^[2]

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 LDLR.

FH
FHC
LDLCQ2

Llyfryddiaeth

"A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family. ". PLoS One. 2017. PMID 29228028.
"Functional variants in the low-density lipoprotein receptor gene are associated with clear cell renal cell carcinoma susceptibility. ". Carcinogenesis. 2017. PMID 29029037.
"Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. ". Genet Mol Res. 2017. PMID 28873201.
"Aortic Calcification Progression in Heterozygote Familial Hypercholesterolemia. ". Can J Cardiol. 2017. PMID 28449836.
"Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.". Hum Mol Genet. 2017. PMID 28334946.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] LDLR - Cronfa NCBI

[1]

[2]