rs759740313

This variant is located in the CEBPZ gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CEBPZ

This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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