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Article

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Human molecular genetics - 1 Aug 2017

Quintana Anita M, Yu Hung-Chun, Brebner Alison, Pupavac Mihaela, Geiger Elizabeth A, Watson Abigail, Castro Victoria L, Cheung Warren, Chen Shu-Huang, Watkins David, Pastinen Tomi, Skovby Flemming, Appel Bruce, Rosenblatt David S, Shaikh Tamim H

Abstract excerpt

CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors, have been associated with cblX. HCFC1 regulates cobalamin metabolism via the regulation of MMACHC expression through its interaction with THAP11, a THAP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28449119
DOI: 10.1093/hmg/ddx157
PMCID: PMC5886234

Genes

THAP11
HCFC1
MMACHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.PMID 28449119Read ↗

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

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

THAP11 <sub>F80L</sub> cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferationSemantic proximity Read ↗

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