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Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
Upon entry to the mitochondria, the 32 amino acid mitochondrial leader sequence at the N-terminus of the protein is cleaved, forming the fully processed monomer. The monomers then associate into homodimers, and bind AdoCbl (one for each monomer active site) to form the final, active holoenzyme form.
MMA is a raw material for the manufacture of other methacrylates. These derivatives include ethyl methacrylate (EMA), butyl methacrylate (BMA) and 2-ethyl hexyl methacrylate (2-EHMA). Methacrylic acid (MAA) is used as a chemical intermediate as well as in the manufacture of coating polymers, construction chemicals and textile applications.
Monomethyl auristatin E is an antimitotic agent which inhibits cell division by blocking the polymerisation of tubulin.The linker to the monoclonal antibody is stable in extracellular fluid, but is cleaved by cathepsin once the conjugate has entered a tumor cell, thus activating the antimitotic mechanism.
65114 Ensembl ENSG00000069329 ENSMUSG00000031696 UniProt Q96QK1 Q9EQH3 RefSeq (mRNA) NM_018206 NM_022997 RefSeq (protein) NP_060676 NP_075373 Location (UCSC) Chr 16: 46.66 – 46.69 Mb Chr 8: 85.99 – 86.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Gene In humans, VPS35 is transcribed on chromosome 16q11.2 where is spans about 29.6 kilobases and contains 17 exons. It is ...
Protein therapeutics are proteins used as experimental or approved therapies for disease states. They include "monoclonal antibodies (mAbs), peptide hormones, growth factors, plasma proteins, enzymes, and hemolytic factors" [1] While proteins can be more specific and flexible in their mechanism of action compared to small-molecule drugs, duration of action and drug delivery can be a challenge.
Protein replacement therapy is a medical treatment that supplements or replaces a protein in patients in whom that particular protein is deficient or absent. [1] [2] There have been significant advances in this treatment. PRT is being tested in clinical trials with the diseases progeria and epidermolysis bullosa dystrophica as a
The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. [ 1 ] [ 2 ] Most members of the SLC group are located in the cell membrane . The SLC gene nomenclature system was originally proposed by the HUGO Gene Nomenclature Committee ( HGNC ) and is the basis for the official HGNC names of ...