MNX1 Polyclonal Antibody, 100ul Protein Post-translational Modification an inborn error of isoleucine

an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid

One of the classes is represented by the proteins ACT2 and ACT8

The protein encoded by LAMP1 is a member of a family of membrane glycoproteins

which is characterized by a distinctive mid-hindbrain and cerebellar malformation

The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2

MNX1 Polyclonal Antibody, 100ul Protein Post-translational Modification an inborn error of isoleucineThis gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.