IKBKAP: Difference between revisions

Latest revision as of 11:30, 15 February 2025

IKBKAP[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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-'''IKBKAP''' (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-Cells, Kinase Complex-Associated Protein) is a gene that encodes the [[enzyme]] IKAP. This enzyme is part of a complex that plays a crucial role in the [[transcription]] process of [[DNA]] into [[RNA]]. Mutations in the IKBKAP gene are associated with [[Familial Dysautonomia]] (FD), a rare genetic disorder that affects the development and survival of certain nerve cells.
+== IKBKAP ==
-== Structure ==
+[[File:Dimerization_of_Elp1.png|thumb|right|Diagram showing the dimerization of Elp1, a protein encoded by the IKBKAP gene.]]
-The IKBKAP gene is located on the long (q) arm of [[chromosome 9]] at position 31. The gene spans approximately 73 kilobases and comprises 37 [[exon]]s. The encoded protein, IKAP, is a 150 kDa protein that is ubiquitously expressed in all tissues, with the highest levels found in the [[brain]], [[heart]], and [[muscle]].
-== Function ==
+'''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]].
-IKAP is a component of the [[elongator complex]], a multiprotein complex that associates with the [[RNA polymerase II]] enzyme and is involved in transcriptional elongation. The elongator complex also plays a role in the modification of [[histone]]s, proteins that package and order the DNA into structural units called [[nucleosome]]s. These modifications can influence gene expression.
-== Clinical significance ==
+=== Function ===
-Mutations in the IKBKAP gene are the primary cause of Familial Dysautonomia (FD), a disorder that affects the development and survival of sensory, sympathetic, and parasympathetic neurons. The most common mutation in individuals with FD is a point mutation in the splice site of exon 20, which leads to tissue-specific skipping of this exon and results in a truncated, nonfunctional protein.
-FD is characterized by insensitivity to pain and temperature, vomiting crises, recurrent pneumonia, abnormal tear production, and more. The disease is most common in individuals of Ashkenazi Jewish descent.
+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]].
-== See also ==
+=== Structure ===
-* [[Familial Dysautonomia]]
+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]]
-* [[RNA polymerase II]]
+* [[Transcription (biology)]]
-* [[Histone]]
+* [[tRNA]]
-* [[Nucleosome]]
+* [[Familial dysautonomia]]
-== References ==
-<references />
-[[Category:Genes]]
+[[Category:Genes on human chromosome 9]]
-[[Category:Human proteins]]
+[[Category:Transcription factors]]
-[[Category:Medical genetics]]
-{{medicine-stub}}