其他名称： SPTLC1; LCB1; Serine palmitoyltransferase 1; Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1
实测条带： 52kD
信号通路： Sphingolipid metabolism;
功能： catalytic activity:Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).,cofactor:Pyridoxal phosphate.,disease:Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1 (HSAN1) [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. HSAN1 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.,pathway:Lipid metabolism; sphingolipid metabolism.,similarity:Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.,subunit:SPTLC1, SPTLC2 and SPTLC3 may encode subunits of the enzyme.,tissue specificity:Widely expressed. Not detected in small intestine.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Single-pass membrane protein .
组织表达： Widely expressed. Not detected in small intestine.
其他名称： SPTLC1; LCB1; Serine palmitoyltransferase 1; Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1
实测条带： 52kD
信号通路： Sphingolipid metabolism;
功能： catalytic activity:Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).,cofactor:Pyridoxal phosphate.,disease:Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1 (HSAN1) [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. HSAN1 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.,pathway:Lipid metabolism; sphingolipid metabolism.,similarity:Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.,subunit:SPTLC1, SPTLC2 and SPTLC3 may encode subunits of the enzyme.,tissue specificity:Widely expressed. Not detected in small intestine.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Single-pass membrane protein .
组织表达： Widely expressed. Not detected in small intestine.
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