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Article

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

Developmental biology - 1 Dec 2014

Quintana Anita M, Geiger Elizabeth A, Achilly Nate, Rosenblatt David S, Maclean Kenneth N, Stabler Sally P, Artinger Kristin B, Appel Bruce, Shaikh Tamim H

Abstract excerpt

Mutations in HCFC1 (MIM300019), have been recently associated with cblX (MIM309541), an X-linked, recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalities. HCFC1 is a transcriptional co-regulator that modulates the expression of numerous downstream target genes including MMACHC, but it is not clear how these HCFC1 targets play a role in the clinical manifestations of...

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Identifiers

PMID: 25281006
DOI: 10.1016/j.ydbio.2014.09.026
PMCID: PMC4391465

Genes

HCFC1
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.

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