SPTLC2丝氨酸棕榈酰转移酶2抗体

本公司经销SPTLC2，丝氨酸棕榈酰转移酶2抗体，克隆类型为polyclonal，宿主来源是Rabbit，SPTLC2丝氨酸棕榈酰转移酶2抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！

货号：BY-9027R
英文名称：Anti-SPTLC2
中文名称：丝氨酸棕榈酰转移酶2抗体
其他名称：名Serine Palmitoyltransferase;SPTLC-2; LCB 2;LCB2;LCB2a;Long chain base biosynthesis protein 2;Long chain base biosynthesis protein 2a;Serine palmitoyl CoA transferase 2;Serine palmitoyltransferase 2;Serine palmitoyltransferase long chain base subunit 2;Serine palmitoyltransferase subunit II;Serine-palmitoyl-CoA transferase 2;SPT 2;SPT2;SPTC2_HUMAN;SPTLC 2;Sptlc2.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 62kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat, hrs, dog, cow, pig
产品介绍：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].Subunit : eterodimer with SPTLC1. Component of the serine palmitoyltransferase （SPT） complex, composed of LCB1/SPTLC1, LCB2 （SPTLC2 or SPTLC3） ａnd ssPT （C14orf147/SSSPTA ａnd C3orf57/SSSPTB）.Subcellular Location : HEndoplasmic reticulum membrane; Single-pass membrane protein.Tissue Specificity : Widely expressed.Similarity : Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.[DISEASE] Defects in SPTLC2 are the cause of hereditary sensory ａnd autonomic neuropathy type 1C （HSAN1C） [MIM:613640]. It is a form of hereditary sensory ａnd autonomic neuropathy, a genetically ａnd clinically heterogeneous group of disorders characterized by degeneration of dorsal root ａnd autonomic ganglion cells, ａnd by prominent sensory abnormalities with a variable degree of motor ａnd autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, ａnd amputations. HSAN1C symptoms include loss of touch ａnd vibration in the feet, dysesthesia ａnd severe panmodal sensory loss in the upper ａnd lower limbs, distal lower limb sensory loss with ulceration ａnd osteomyelitis, ａnd distal muscle weakness.