SPTLC2

Serinska palmitoiltransferaza, dugolančana bazna podjedinica 2
Identifikatori
Simboli	SPTLC2; HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
Vanjski ID	OMIM: 605713 MGI: 108074 HomoloGene: 21610 GeneCards: SPTLC2 Gene
EC broj	2.3.1.50
Ontologija gena Molekularna funkcija • aktivnost serinske C-palmitoiltransferaze • proteinsko vezivanje • piridoksal fosfatno vezivanje Celularna komponenta • membrana endoplazmatičnog retikuluma • integralno sa membranom • serinski C-palmitoiltransferazni kompleks • SPOTS kompleks Biološki proces • sfingolipidni metabolički proces • sfingomijelinski biosintetički proces
Pregled RNK izražavanja
podaci
Ortolozi
Vrsta	Čovek	Miš
Entrez	9517	20773
Ensembl	ENSG00000100596	ENSMUSG00000021036
UniProt	O15270	P97363
RefSeq (mRNA)	NM_004863	NM_011479
RefSeq (protein)	NP_004854	NP_035609
Lokacija (UCSC)	Chr 14: 77.97 - 78.08 Mb	Chr 12: 87.31 - 87.39 Mb
PubMed pretraga	[1]	[2]

Serinska palmitoiltransferaza, dugolančana bazna podjedinica 2 (SPTLC2) protein je koji je čoveka kodiran SPTLC2 genom.

Ovaj gen kodira dugolančanu baznu podjedinicu serinske palmitoiltransferaze. Serinska palmitoiltransferaza, koja se sastoji od dve različite podjedinice, je inicijalni enzim u sfingolipidnoj biosintezi. Ona katalizuje piridoksal 5'-fosfat zavisnu kondenzaciju L-serina i palmitoil KoA do 3-oksosfinganina. Mutacije ovog gene su identifikovane kod pacijenata sa naslednom senzornom neuropatijom tipa I. Alternativno splajsovane varijante koje kodiraju različite izoforme su poznate.

Literatura

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