Gene Symbol | MMACHC |
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Entrez Gene | 25974 |
Alt Symbol | cblC |
Species | Human |
Gene Type | protein-coding |
Description | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
Other Description | methylmalonic aciduria and homocystinuria type C protein |
Swissprots | Q9BRQ7 Q5T157 Q9Y4U1 |
Accessions | EAX06983 Q9Y4U1 AK098537 AL080062 CAB45693 BC006122 AAH06122 BM980565 BU632364 BU839693 JF432592 ADZ15809 XM_005270724 XP_005270781 XM_011541204 XP_011539506 NM_015506 NP_056321 |
Function | May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). |
Subcellular Location | Cytoplasm {ECO:0000269|PubMed:23270877}. |
Tissue Specificity | Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO:0000269|PubMed:16311595}. |
Top Pathways | Vitamin digestion and absorption |
MMACHC CRISPR/Cas9 KO Plasmid (h) - sc-408212 from Santa Cruz Biotechnology
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MMACHC HDR Plasmid (h) - sc-408212-HDR from Santa Cruz Biotechnology
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MMACHC Double Nickase Plasmid (h) - sc-408212-NIC from Santa Cruz Biotechnology
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MMACHC Double Nickase Plasmid (h2) - sc-408212-NIC-2 from Santa Cruz Biotechnology
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MMACHC CRISPR Activation Plasmid (h) - sc-408212-ACT from Santa Cruz Biotechnology
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MMACHC CRISPR Activation Plasmid (h2) - sc-408212-ACT-2 from Santa Cruz Biotechnology
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MMACHC Lentiviral Activation Particles (h) - sc-408212-LAC from Santa Cruz Biotechnology
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MMACHC Lentiviral Activation Particles (h2) - sc-408212-LAC-2 from Santa Cruz Biotechnology
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MMACHC siRNA (h) - sc-88005 from Santa Cruz Biotechnology
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MMACHC shRNA Plasmid (h) - sc-88005-SH from Santa Cruz Biotechnology
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MMACHC shRNA (h) Lentiviral Particles - sc-88005-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU121721 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN14417 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND14417 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR10633 from Sigma-Aldrich
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MMACHC siRNA (Human) - CRH8625 from Cohesion Biosciences
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shRNA set against Human MMACHC (NM_015506.2) - SHH342760 from Creative biogene
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shRNA set against Human MMACHC(NM_015506.2) - SHG144473 from Creative biogene
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Human MMACHC siRNA - orb269127 from Biorbyt
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MMACHC shRNA Plasmid (Human) - CHH8625 from Cohesion Biosciences
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MMACHC miRNA 3'UTR clone - MiUTR1H-06342 from Creative biogene
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