Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Mmachc gene is required for pre-implantation embryogenesis in the mouse.

Molecular genetics and metabolism - 1 Jul 2014

Moreno-Garcia Maira A, Pupavac Mihaela, Rosenblatt David S, Tremblay Michel L, Jerome-Majewska Loydie A

Abstract excerpt

Patients with mutations in MMACHC have the autosomal recessive disease of cobalamin metabolism known as cblC. These patients are unable to convert cobalamin into the two active forms, methylcobalamin and adenosylcobalamin and consequently have elevated homocysteine and methylmalonic acid in blood and urine. In addition, some cblC patients have structural abnormalities, including congenital heart defects. MMACHC...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Embryonic Development

Share to Gene Order

Share to Gene Targeting

Share to Genetic Vectors

Share to Hyperhomocysteinemia

Share to Oxidoreductases

Source

Identifiers

PMID: 24889031
DOI: 10.1016/j.ymgme.2014.05.002

Genes

MMACHC

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Mmachc gene is required for pre-implantation embryogenesis in the mouse.PMID 24889031Read ↗

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development.Semantic proximity Read ↗

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.Semantic proximity Read ↗

Abnormal chondrocyte intercalation in a zebrafish model of <i>cblC</i> syndrome restored by an MMACHC cobalamin binding mutantSemantic proximity Read ↗

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

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.Semantic proximity Read ↗

A Novel Mmachc c.80A>G Mouse Model Reveals the Role of Mitochondrial Dysfunction in Skeletal Muscle in Combined Methylmalonic Acidemia and HomocystinuriaSemantic proximity Read ↗

Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.Semantic proximity Read ↗

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.Semantic proximity Read ↗

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.Semantic proximity Read ↗

Mice with a homozygous gene trap vector insertion in mgcRacGAP die during pre-implantation development.Semantic proximity Read ↗

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.Semantic proximity Read ↗

Generation of mice encoding a conditional null allele of Gcm2.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.