INTS9

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Description

The INTS9 (integrator complex subunit 9) is a protein-coding gene located on chromosome 8.

Integrator complex subunit 9 is a protein that in Humans is encoded by the INTS9 gene.

The INTS9 protein is a component of the Integrator (INT) complex, which plays a crucial role in the transcription and 3'-box-dependent processing of the small nuclear RNAs (snRNAs) U1 and U2. The Integrator complex associates with the C-terminal domain (CTD) of the RNA polymerase II largest subunit (POLR2A) and is likely recruited to the U1 and U2 snRNAs genes. INTS9, as part of the INT complex, is thought to mediate the recruitment of cytoplasmic dynein to the nuclear envelope.

INTS9 is also known as CPSF2L, INT9, RC74.

Associated Diseases

• hemoglobin E-beta-thalassemia syndrome
• hemoglobin D disease
• gluthathione peroxidase deficiency
• isolated asymptomatic elevation of creatine phosphokinase
• hemolytic anemia due to erythrocyte adenosine deaminase overproduction
• IRIDA syndrome
• pentosuria
• dominant beta-thalassemia
• delta-beta-thalassemia
• Rh deficiency syndrome
• elliptocytosis 2
• hemoglobin E disease
• hemoglobin C-beta-thalassemia syndrome
• alpha-thalassemia-myelodysplastic syndrome
• hemoglobin H disease
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome