Product Name	SPTLC1
Chinese Name	丝氨酸棕榈酰转移酶1抗体
Alias	HSAN; HSAN1; HSN1; LBC1; LCB 1; LCB1; Long chain base biosynthesis protein 1; Serine C palmitoyltransferase; Serine palmitoyl CoA transferase 1; Serine palmitoyltransferase 1; Serine palmitoyltransferase long chain base subunit 1; Serine palmitoyltransferase subunit 1; SPT 1; SPT1; SPTI; SPTLC 1; SPTC1_HUMAN.
Research Area	Tumour  Cardiovascular  immunology  Chromatin and nuclear signals  Neurobiology  Signal transduction  Apoptosis  transcriptional regulatory factor
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Dog, Pig, Cow, )
Applications	WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	53kDa
Cellular localization	cytoplasmic The cell membrane
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human SPTLC1: 121-220/473
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013] Function: Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 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-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Subunit: Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SSSPTA or SSSPTB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3. Subcellular Location: Endoplasmic reticulum membrane; Single-pass membrane protein Tissue Specificity: Widely expressed. Not detected in small intestine. DISEASE: Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400]. The hereditary sensory and autonomic neuropathies are a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN1A is an autosomal dominant axonal neuropathy with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. SWISS: O15269 Gene ID: 10558 Database links: Entrez Gene: 426145 Chicken Entrez Gene: 739412 Chimpanzee Entrez Gene: 614165 Cow Entrez Gene: 100726468 Guinea pig Entrez Gene: 10558 Human Entrez Gene: 268656 Mouse Entrez Gene: 100344536 Rabbit Entrez Gene: 705324 Rhesus monkey Omim: 605712 Human SwissProt: Q3MHG1 Cow SwissProt: Q60HD1 Cynomolgus Monkey SwissProt: O15269 Human SwissProt: O35704 Mouse Unigene: 90458 Human Unigene: 240336 Mouse

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