IKBKAP

IKBKAP

Diagram showing the dimerization of Elp1, a protein encoded by the IKBKAP gene.

IKBKAP (Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a gene that encodes the protein Elongator complex protein 1 (Elp1). This protein is a component of the Elongator complex, which is involved in transcriptional elongation and tRNA modification.

Function

The IKBKAP gene is crucial for the proper functioning of the Elongator complex. Elp1, the protein product of IKBKAP, plays a significant role in the regulation of gene expression by facilitating the elongation phase of transcription. It is also involved in the modification of transfer RNA (tRNA), which is essential for accurate and efficient protein synthesis.

Structure

Elp1 is known to form dimers, as illustrated in the diagram. The dimerization of Elp1 is important for its function within the Elongator complex. The structure of Elp1 allows it to interact with other components of the Elongator complex, thereby influencing its activity in transcriptional regulation and tRNA modification.

Clinical Significance

Mutations in the IKBKAP gene are associated with familial dysautonomia, a rare genetic disorder that affects the development and survival of certain nerve cells. This condition is characterized by sensory and autonomic nervous system dysfunction, leading to a variety of symptoms including insensitivity to pain, temperature instability, and cardiovascular issues.

Research

Ongoing research is focused on understanding the precise mechanisms by which IKBKAP mutations lead to familial dysautonomia. Studies are also exploring potential therapeutic approaches to correct or compensate for the defective gene function.

Related pages

• Elongator complex
• Transcription (biology)
• tRNA
• Familial dysautonomia