EDRF1

Chr 10

erythroid differentiation regulatory factor 1

Also known as: C10orf137

NCBI Gene: 26098 ENSG00000107938 UniProt: Q3B7T1

EDRF1 encodes a transcription factor that regulates erythroid differentiation and globin gene expression by inhibiting DNA binding of GATA-1. Mutations cause erythropoietic protoporphyria with severe hemolytic anemia, an autosomal recessive disorder affecting red blood cell production and leading to significant anemia. The gene is highly constrained against loss-of-function variants (LOEUF 0.402), indicating that complete loss of function is likely deleterious.

ResearchSummary from RefSeq, UniProt

This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.40

LOEUF

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Mechanism

Some data sources returned errors (1)

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