Infobox Disease Name Cystathioninuria Image L Cystathionine.svg Caption Cystathionine DiseasesDB 29671 ICD10 ICD10 E 72 1 e 70 ICD9 ICD9 270.4 ICDO OMIM 219500 MedlinePlus eMedicineSubj eMedicineTopic MeshID Cystathioninuria , also called cystathionase deficiency , is an autosomal recessive ref name omim OMIM 219500 ref metabolic disorder that results in an excess of cystathionine in the urine . It is associated with a congenital dysfunction of the enzyme cystathionase , or acquired deficiency of vitamin B6 vitamin B sub 6 sub which is essential for the function of this enzyme. The latter is usually related to an overall deficiency of all the B complex vitamins. Genetics Image Autorecessive.jpg thumb left Cystathioninuria has an autosomal recessive pattern of heredity inheritance . Cystathioninuria is inherited in an autosomal recessive manner. ref name omim This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Pathophysiology File Cysteine Biosynthesis.png thumb right 150px Cysteine metabolism. Cystathionine gamma lyase cystathionase catalyzes the lower reaction. References reflist Amino acid metabolic pathology Category Amino acid metabolism disorders Category Autosomal recessive disorders genetic disorder stub ... more details
chembox verifiedrevid 443553935 ImageFile Ref chemboximage correct ?? ImageFile Cystathionine.png ImageName Skeletal formula ImageFile1 Cystathionine 3D balls.png ImageSize1 230px ImageName1 Ball and stick model IUPACName 2 amino 4 2 amino 2 carboxy ethyl thio butanoic acid OtherNames small L small Cystathionine S 2 R 2 Amino 2 carboxyethyl small L small homocysteine Section1 Chembox Identifiers KEGG Ref keggcite correct kegg KEGG C00542 InChI 1 C7H14N2O4S c8 4 6 10 11 1 2 14 3 5 9 7 12 13 h4 5H,1 3,8 9H2, H,10,11 H,12,13 InChIKey ILRYLPWNYFXEMH UHFFFAOYAH ChEMBL Ref ebicite correct EBI ChEMBL 209241 StdInChI Ref stdinchicite correct chemspider StdInChI 1S C7H14N2O4S c8 4 6 10 11 1 2 14 3 5 9 7 12 13 h4 5H,1 3,8 9H2, H,10,11 H,12,13 StdInChIKey Ref stdinchicite correct chemspider StdInChIKey ILRYLPWNYFXEMH UHFFFAOYSA N CASNo Ref cascite correct CAS CASNo 56 88 2 PubChem 834 ChemSpiderID Ref chemspidercite correct chemspider ChemSpiderID 811 ChEBI Ref ebicite correct EBI ChEBI 17755 SMILES O C O C N CSCCC C O O N MeSHName Cystathionine Section2 Chembox Properties Formula C sub 7 sub H sub 14 sub N sub 2 sub O sub 4 sub S MolarMass 222.263 g mol Appearance Density MeltingPt BoilingPt Solubility Section3 Chembox Hazards MainHazards FlashPt Autoignition Cystathionine is an intermediate in the synthesis of cysteine . It is generated from homocysteine and serine by cystathionine beta synthase . It is cleaved into cysteine and ketobutyrate by cystathionine gamma lyase . An excess in the urine is called cystathioninuria . File Cysteine Biosynthesis.png thumb left 150px Cysteine metabolism. Cystathionine beta synthase catalyzes the upper reaction and cystathionine gamma lyase catalyzes the lower reaction. Amino acid metabolism intermediates biochem stub Category Sulfur amino acids fr Cystathionine ja ... more details
enzyme Name cystathionine gamma lyase EC number 4.4.1.1 CAS number 9012 96 8 IUBMB EC number 4 4 1 1 GO code 0004123 image Cysteine Biosynthesis.png width caption Cysteine metabolism. Cystathionase catalyzes the lower reaction. Cystathionine gamma lyase or cystathionase is an enzyme which breaks down cystathionine into cysteine and ketobutyrate . Pyridoxal phosphate is a prosthetic group of this enzyme. Cystathionine gamma lyase also catalyses the following elimination reactions L homoserine to form H sub 2 sub O, NH sub 3 sub and 2 oxobutanoate L cystine , producing thiocysteine, pyruvic acid pyruvate and NH sub 3 sub L cysteine producing pyruvate, NH sub 3 sub and H sub 2 sub S In some bacteria and mammal s, including humans, this enzyme takes part in generating hydrogen sulfide . ref name Wang 2010 cite journal author Wang R title Toxic Gas, Lifesaver journal Scientific American volume issue pages 52 year 2010 month March pmid doi url http www.scientificamerican.com article.cfm?id toxic gas lifesaver ref Examples The following cystathionine gamma lyase is expressed in humans protein Name cystathionase cystathionine gamma lyase caption image width HGNCid 2501 Symbol CTH AltSymbols EntrezGene 1491 OMIM 607657 RefSeq NM 001902 UniProt P32929 PDB ECnumber 4.4.1.1 Chromosome 1 Arm p Band 31.1 LocusSupplementaryData Pathology An deficiency is associated with cystathioninuria . See also Cysteine metabolism External links MeshName Cystathionine gamma lyase References Reflist lyase stub Carbon sulfur lyases Amino acid metabolism enzymes ... more details
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