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Article

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Human molecular genetics - 3 Aug 2020

Sloan Jennifer L, Achilly Nathan P, Arnold Madeline L, Catlett Jerrel L, Blake Trevor, Bishop Kevin, Jones Marypat, Harper Ursula, English Milton A, Anderson Stacie, Trivedi Niraj S, Elkahloun Abdel, Hoffmann Victoria, Brooks Brian P, Sood Raman, Venditti Charles P

Abstract excerpt

Cobalamin C (cblC) deficiency, the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is characterized by a failure to metabolize cobalamin into adenosyl- and methylcobalamin, which results in the biochemical perturbations of methylmalonic acidemia,...

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Identifiers

PMID: 32186706
DOI: 10.1093/hmg/ddaa044
PMCID: PMC7399538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.PMID 32186706Read ↗

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