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Article

Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.

Clinical genetics - 1 Sept 2024

Dunstan-Harrison Caitlin, Morison Ian M, Ledgerwood Elizabeth C

Abstract excerpt

Variants in the 5' UTR of ANKRD26 are a common cause of inherited thrombocytopenia (ANKRD26-RT), and are associated with sustained ANKRD26 expression, which inhibits megakaryocyte maturation and proplatelet formation. ANKRD26 expression is controlled by the binding of a RUNX1/FLI1 complex to the 5' UTR. To date, all reported ANKRD26-RD associated variants have been within the RUNX1 binding site and a 22 base pair...

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Topics

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Share to 5' Untranslated Regions
Share to Binding Sites
Share to Blood Platelets

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Core Binding Factor Alpha 2 Subunit

Share to Intercellular Signaling Peptides and Proteins

Share to Megakaryocytes

Share to Proto-Oncogene Protein c-fli-1

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Source

Identifiers

PMID: 38757516
DOI: 10.1111/cge.14547

Genes

FLI1
RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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