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Gene Symbol |
SPTLC2 |
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Aliases |
HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a |
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Entrez Gene ID |
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Gene Name |
Serine palmitoyltransferase long chain base subunit 2 |
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Chromosomal Location |
14q24.3 |
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HGNC ID |
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Summary |
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Serine palmitoyltransferase 2, LCB 2, SPT 2, long chain base biosynthesis protein 2a, serine palmitoyltransferase, subunit II, serine-palmitoyl-CoA transferase 2 |
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Function |
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Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis (By similarity). |
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00155 |
Aminotran_1_2 |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000299855 |
P08254 |
P08254 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Nervous System Diseases |
| Dysautonomia |
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| Psychiatric/Brain disorders |
| Pain Disorder |
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| Intellectual Disability |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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CK-9, A1AT, CK-1, APOA-1, ATTR, DBP, HP, DRAM2, APOA-4, IL12-A, SIRT2, FGG, FGB, ZAG, RBP, A1BG, GLUT4, SERPINA1, TF, MAK |
PCOS, increased risk of insulin resistance, abnormal glucose metabolism, type II diabetes, abnormal lipid metabolism, hyperinsulinemia |
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Rotterdam consensus criteria |
Related
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30 PCOS and 30 normal |
Thirty-two protein spots were shown to be significantly differentially expressed between PCOS and normal follicular fluids, of which 20 unique proteins were identified to be associated with cellular metabolism and physiological processes; 13 of these proteins were upregulated while seven were downregulated in PCOS follicular fluids. Semiquantitative reverse transcription-polymerase chain reaction (RTPCR) analyses revealed that mRNA levels of serine palmitoyltransferase 2, serine/threonine-protein kinase male germ cell-associated kinase (MAK) and DNA damage-regulated autophagy modulator protein 2 decreased significantly in granulosa cells of PCOS patients compared with normal samples. |
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