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Article

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

American journal of human genetics - 5 Sept 2013

Yu Hung-Chun, Sloan Jennifer L, Scharer Gunter, Brebner Alison, Quintana Anita M, Achilly Nathan P, Manoli Irini, Coughlin Curtis R, Geiger Elizabeth A, Schneck Una, Watkins David, Suormala Terttu, Van Hove Johan L K, Fowler Brian, Baumgartner Matthias R, Rosenblatt David S, Venditti Charles P, Shaikh Tamim H

Abstract excerpt

Derivatives of vitamin B12 (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and urine. The most common inborn error of cobalamin metabolism, combined methylmalonic acidemia and hyperhomocysteinemia, cblC type, is caused by mutations in MMACHC....

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Source

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Identifiers

PMID: 24011988
DOI: 10.1016/j.ajhg.2013.07.022
PMCID: PMC3769968

Genes

HCFC1
MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.PMID 24011988Read ↗

Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.Semantic proximity Read ↗

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanismSemantic proximity Read ↗

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Semantic proximity Read ↗

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Semantic proximity Read ↗

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysisSemantic proximity Read ↗

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

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.Semantic proximity Read ↗

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.Semantic proximity Read ↗

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsSemantic proximity Read ↗

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic proximity Read ↗

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.Semantic proximity Read ↗

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorderSemantic proximity Read ↗

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