2024 Mmachc protein

Mmachc protein

Author: mwmn

August undefined, 2024

WebView mouse Mmachc Chr4:116559631-116565582 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression Web3 aug. 2024 · Because zebrafish harbor a full complement of cobalamin metabolic enzymes, we used genome editing to study the loss of mmachc function and to develop the first …

NM_015506.3(MMACHC):c.658_660del (p.Lys220del) AND …

WebViewers. Legend. Settings Webmissing protein (VariO:0240) sequence retaining amino acid indel (VariO:0029) alternatively initiated protein (VariO:0443) artificial protein variation (VariO:0246) mistranslated … enh clinical pathways

Recombinant Human MMACHC/CblC protein (ab126674) - Abcam

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. The 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 … Meer weergeven Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene. Meer weergeven Mutations are associated with methylmalonic acidemia. Meer weergeven • GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism Meer weergeven • Froese DS, Zhang J, Healy S, Gravel RA (2009). "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with … Meer weergeven WebThe genes MMACHC and MMADHC encode critical proteins involved in the intracellular metabolism of cobalamin. Two clinical features, homocystinuria and methylmalonic … enh clw rota

Mmachc protein

Mmachc MGI Mouse Gene Detail - MGI:1914346 - methylmalonic …

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. … WebThe processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR …

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WebThe MMACHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin … WebBackgroundMutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in …

Web23 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 … Web10 jan. 2006 · The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and …

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 … 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 Investigator of the project “Identification of Compounds to Rescue MMACHC Functional Deficiency in CBLC Disease” granted by HCU Network America, Organic Acidemia Association and …

Web21 nov. 2024 · MMACHC metabolism of cobalamin associated C Gene ID: 25974, updated on 13-Nov-2024 Gene type: protein coding Also known as: cblC See all available tests …

Web109129 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 … dreyer transportationWeb21 mrt. 2024 · MMACHC (Metabolism Of Cobalamin Associated C) is a Protein Coding gene. Diseases associated with MMACHC include Methylmalonic Aciduria And … enhealth asbestosWebNM_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: en head downloadWebSubcellular 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... enhcd etherswitch l2/l3 sm 16ge poeWeb10 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 … dreyer \u0026 reinbold bmw indianapolis inWebMMACHC (methylmalonic aciduria (cobalamin deficien...)) LOVD v.3.0 Build 29 [ Current LOVD status] Register as submitter Log in Curator: Global Variome, with Curator vacancy View all genes View MMACHC gene homepage View graphs about the MMACHC gene database Create a new gene entry View all transcripts View all transcripts of gene … enh debt protection best buyWebThe exact function of the MMACHC protein is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for … dreyer \u0026 reinbold bmw south