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 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| 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.[1][2][3]
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.[1]
Reference
[уреди | уреди извор]- ^ а б „Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2”.
- ^ Nagiec MM, Lester RL, Dickson RC (1996). „Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase”. Gene. 177 (1–2): 237—41. PMID 8921873. doi:10.1016/0378-1119(96)00309-5.
- ^ Weiss B, Stoffel W (1997). „Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis”. Eur. J. Biochem. 249 (1): 239—47. PMID 9363775. doi:10.1111/j.1432-1033.1997.00239.x.
Literatura
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- Weiss B, Stoffel W (1997). „Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis”. Eur. J. Biochem. 249 (1): 239—47. PMID 9363775. doi:10.1111/j.1432-1033.1997.00239.x.
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. PMID 10737800. doi:10.1073/pnas.97.7.3491. - Dawkins JL; Brahmbhatt S; Auer-Grumbach M; et al. (2002). „Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy”. Neuromuscul. Disord. 12 (7–8): 656—8. PMID 12207934. doi:10.1016/S0960-8966(02)00015-9.
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