2024 Mmachc protein

Mmachc protein

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August undefined, 2024

WebDefects in the MMACHC gene represent the most common disorder of cobalamin (Cbl) metabolism, affecting synthesis of the enzyme cofactors adenosyl-Cbl and methyl-Cbl. … WebSubcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B (12) metabolism Molecular Genetics and Metabolism December 7, 2012 MMACHC and MMADHC are the...

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WebMMACHC Proteins We offer MMACHC Peptides and MMACHC Proteins for use in common research applications: Blocking/Neutralizing, Control, ELISA, Protein Array, … WebLuciana Hannibal is a Biochemist investigating in the fields of Metabolism and Cofactor Enzymology. She leads a research group and serves as … instant pot tomatoes and zucchinni

The MMACHC proteome: hallmarks of functional cobalamin

Web28 mrt. 2024 · MMACHC is an essential protein for the body to metabolise vitamin B 12, and its deficiency will cause cblC-type methylmalonic aciduria and homocystinuria. … Webmissing protein (VariO:0240) sequence retaining amino acid indel (VariO:0029) alternatively initiated protein (VariO:0443) artificial protein variation (VariO:0246) mistranslated … WebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site. jjay certificates

Mmachc protein

MMACHC metabolism of cobalamin associated C - NIH Genetic …

WebThe genes MMACHC and MMADHC encode critical proteins involved in the intracellular metabolism of cobalamin. Two clinical features, homocystinuria and methylmalonic aciduria, define inborn errors of these genes. Webprotein-coding gene in the species Homo sapiens. This page was last edited on 20 January 2024, at 07:41. All structured data from the main, Property, Lexeme, and EntitySchema …

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WebSpecificity: This antibody is specific for the MMACHC protein. MMACHC is a cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob … Web21 mrt. 2024 · MMACHC (Metabolism Of Cobalamin Associated C) is a Protein Coding gene. Diseases associated with MMACHC include Methylmalonic Aciduria And …

Web10 jan. 2024 · MMACHC encodes a protein that traffics cobalamin after it exits the lysosome and also removes the upper ligand as a first step in the conversion of … WebNM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) AND Disorders of Intracellular Cobalamin Metabolism Clinical significance: Likely pathogenic (Last evaluated: Apr 27, 2024) Review status:

Web28 mrt. 2024 · The full-length MMACHC contains 282 amino acids, and the mass weight is 31.7 kDa [14]. The primary sequence of MMACHC is well conserved among mammals, … WebMethylmalonic aciduria and homocystinuria type C protein Synonyms Not Available Gene Name MMACHC ... Kochan G, Oppermann U, Niesen FH, Gravel RA: Thermolability of …

Web29 mrt. 2024 · The gene responsible for cblC, named MMACHC, catalyzes the reductive decyanation of cyanocobalamin. data suggest that the interaction of methionine synthase …

WebYour dollars at work: Updates from the 2024 CblC research grant! March 2024 Silvia Vilasi (Institute of Biophysics (IBF), National Research Council (CNR), Italy) Principal … instant pot tomatoes and pastaWeb5 feb. 2024 · MMACHC: Gene Alias: RP11-291L19.3, cblC, methylmalonic aciduria and homocystinuria type C protein: Host Species: Rabbit: Purification Method: Antigen … jjay human resourcesWebThe MMACHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin … jjay cuny emailWeb11 okt. 2024 · Methylmalonic aciduria and homocystinuria type D (MMADHC; encoded by MMADHC]) is another chaperone protein that interacts with MMACHC. Within the … jjay gas and oilWeb23 sep. 2008 · We have purified recombinant human MMACHC to >95% homogeneity, and based on analytical ultracentrifugation studies, we found that it exists as a monomer with … jjay federal work studyWebThe C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake. The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation of alkylcobalamins including methylcobalamin and adenosylcobalamin . [2] jjay directoryWeb109129 Ensembl ENSG00000168288 ENSMUSG00000026766 UniProt Q9H3L0 Q99LS1 RefSeq (mRNA) NM_015702 NM_133839 NM_001348198 NM_001348199 NM_001348200 RefSeq (protein) NP_056517 NP_598600 NP_001335127 NP_001335128 NP_001335129 Location (UCSC) Chr 2: 149.57 – 149.59 Mb Chr 2: 50.17 – 50.19 Mb PubMed search … jjay human rights masters