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-Over-expression-Lysate - LY14453a from Abgent, a WuXi AppTec company
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MMACHC 293T Cell Transient Overexpression Lysate(Denatured) - H00025974-T01 from Acris Antibodies
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MMACHC overexpression lysate - LY402444 from Acris Antibodies
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MMACHC 293 Cell Lysate - 402139 from ABBIOTEC
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MMACHC Overexpression Lysate (Native) - NBL1-13144 from Novus Biologicals
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MMACHC Over-expression Lysate Product - GWB-F1DCC0 from Genway Biotech
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Human Cbl-c / CBL-3 Insect Cell Lysate (WB positive control) - 15659-H20BL-300 from Sino Biological
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MMACHC Overexpression Lysate (Denatured) - H00025974-T01 from Novus Biologicals
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MMACHC Overexpression Lysate (Denatured) - H00025974-T03 from Novus Biologicals
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MMACHC Overexpression Lysate (Denatured) - H00025974-T02 from Novus Biologicals
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Human CBLC Baculovirus-Insect Cells Transfected Lysate (positive control) (denatured) - orb175291 from Biorbyt
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Panoply™ Human MMACHC Knockdown Stable Cell Line - CSC-DC009583 from Creative biogene
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