HEATR3

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Description

The HEATR3 (HEAT repeat containing 3) is a protein-coding gene located on chromosome 16.

HEATR3 is involved in ribosome biogenesis, specifically in the nuclear import of the 60S ribosomal protein L5/large ribosomal subunit protein uL18 (RPL5). This protein is also essential for proper erythrocyte maturation.

HEATR3 is also known as DBA21, SYO1.

Associated Diseases

• Diamond-Blackfan anemia
• Diamond-Blackfan anemia 21