Non disponible en dehors du Royaume-Uni et de l'Irlande
General description
This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy
Immunogen
ETHE1 (NP_055112.2, 1 a.a. ~ 254 a.a) full-length human protein.SequenceMAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA
Physical form
Solution in phosphate buffered saline, pH 7.4
Ce produit répond aux critères suivants pour être admissible aux récompenses suivantes :