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Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. [citation needed]
Argininemia (Deficiency of arginase) Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (Deficiency of the mitochondrial ornithine transporter) [ 8 ] [ 17 ] All urea cycle defects, except OTC deficiency, are inherited in an autosomal recessive manner.
11846 Ensembl ENSG00000118520 ENSMUSG00000019987 UniProt P05089 Q61176 RefSeq (mRNA) NM_000045 NM_001244438 NM_001369020 NM_007482 RefSeq (protein) NP_000036 NP_001231367 NP_001355949 NP_031508 Location (UCSC) Chr 6: 131.47 – 131.58 Mb Chr 10: 24.79 – 24.8 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The human ARG1 gene encodes the protein arginase. Function Arginase catalyzes ...
These patients had been diagnosed with advanced disease and were given the vaccine after their tumors had been surgically removed. All remained cancer-free after a median follow-up period of just ...
“Studies have also found that anthocyanins can help protect against certain cancers and neurological decline/neurodegenerative disease.” But more research is needed. But more research is ...
Arginine residues in proteins can be deiminated by PAD enzymes to form citrulline, in a post-translational modification process called citrullination.This is important in fetal development, is part of the normal immune process, as well as the control of gene expression, but is also significant in autoimmune diseases. [36]
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