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 (A-13) - sc-161860 from Santa Cruz Biotechnology
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MMACHC (D-12) - sc-161861 from Santa Cruz Biotechnology
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MMACHC (FL-282) - sc-368223 from Santa Cruz Biotechnology
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MMACHC (N-13) - sc-161862 from Santa Cruz Biotechnology
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Anti-MMACHC antibody - ab68678 from Abcam
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Anti-MMACHC antibody [2A6] - ab127984 from Abcam
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Anti-MMACHC antibody [EPR11268] - ab177956 from Abcam
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Anti-MMACHC antibody - C-terminal - ab156236 from Abcam
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Anti-MMACHC Antibody (clone 1A4) - LS-C337789 from LifeSpan Bioscience
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Anti-MMACHC Antibody (clone 4E12) - LS-C174084 from LifeSpan Bioscience
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Anti-MMACHC Antibody (clone 1B7) - LS-C174052 from LifeSpan Bioscience
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Anti-MMACHC Antibody (clone 6H5) - LS-C174064 from LifeSpan Bioscience
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Anti-MMACHC Antibody (clone 6B5) - LS-C174134 from LifeSpan Bioscience
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Anti-MMACHC Antibody (clone 1E7) - LS-C337785 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa1-218) - LS-C185841 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa190-239) - LS-C145664 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267) - LS-C157889 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267, AP) - LS-C263245 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267, APC) - LS-C263247 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267, Biotin) - LS-C263248 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267, FITC) - LS-C263249 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267, Azide-free, HRP) - LS-C263250 from LifeSpan Bioscience
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Anti-MMACHC Antibody (aa239-267, PE) - LS-C263251 from LifeSpan Bioscience
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Anti-MMACHC Antibody (clone 4E9) - LS-C173770 from LifeSpan Bioscience
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Anti-MMACHC Antibody - LS-C309022 from LifeSpan Bioscience
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