功能： disease:Defects in SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431]. Neurofibromatosis type 1 (NF1) is one of the most frequent autosomal dominant diseases. It belongs to the group of disorders known as the 'neuro-cardio-facial-cutaneous' syndromes, present with a variable degree of cognitive impairment, facial dysmorphism, congenital heart defects and skin abnormalities. NFLS is a form of these disorders with autosomal dominant trait consisting of multiple cafe-au-lait spots, axillary freckling, macrocephaly and a Noonan-like dysmorphy in some individuals.,function:Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow.,PTM:Phosphorylated on tyrosine.,sequence caution:Contaminating sequence. Potential poly-A sequence.,similarity:Contains 1 KBD domain.,similarity:Contains 1 SPR (sprouty) domain.,similarity:Contains 1 WH1 domain.,subcellular location:Localized in cholesterol-rich membrane raft/caveola fractions.,subunit:Interacts with Ras (By similarity). Homodimer and heterodimer. Interacts with CAV1. Able to interact with SPRED2 to form heterodimers.,tissue specificity:Weakly expressed in embryonic cell line (HEK-293).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein . Membrane, caveola ; Peripheral membrane protein . Nucleus . Localized in cholesterol-rich membrane raft/caveola fractions.
组织表达： Weakly expressed in embryonic cell line HEK293.
科研货号： PLA008223
SPRE1 Polyclonal Antibody
Catalog NoPLA008223
Product information
基因名称： SPRED1
蛋白名称： Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) (hSpred1)
功能： disease:Defects in SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431]. Neurofibromatosis type 1 (NF1) is one of the most frequent autosomal dominant diseases. It belongs to the group of disorders known as the 'neuro-cardio-facial-cutaneous' syndromes, present with a variable degree of cognitive impairment, facial dysmorphism, congenital heart defects and skin abnormalities. NFLS is a form of these disorders with autosomal dominant trait consisting of multiple cafe-au-lait spots, axillary freckling, macrocephaly and a Noonan-like dysmorphy in some individuals.,function:Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow.,PTM:Phosphorylated on tyrosine.,sequence caution:Contaminating sequence. Potential poly-A sequence.,similarity:Contains 1 KBD domain.,similarity:Contains 1 SPR (sprouty) domain.,similarity:Contains 1 WH1 domain.,subcellular location:Localized in cholesterol-rich membrane raft/caveola fractions.,subunit:Interacts with Ras (By similarity). Homodimer and heterodimer. Interacts with CAV1. Able to interact with SPRED2 to form heterodimers.,tissue specificity:Weakly expressed in embryonic cell line (HEK-293).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein . Membrane, caveola ; Peripheral membrane protein . Nucleus . Localized in cholesterol-rich membrane raft/caveola fractions.
组织表达： Weakly expressed in embryonic cell line HEK293.
在线咨询
湘公网安备