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CREBBP by Mind Map: CREBBP

1. The CREB binding protein is closely related to p300. They are both needed to perform cell growth, DNA repair, differentiation, and apoptosis.

1.1. Relating to p300, both of these proteins are responsible for transcription factors that could alter the cells behavior into cancerous activity.

2. The CREBBP gene provides instructions for making CREB binding protein.

2.1. CREB binding protein is called a transcriptional coactivator.

2.1.1. The CREB protein is needed to control cell growth and cell division. The protein is also needed to differentiate cells.

2.2. CREBBP regulates the activity of many genes in tissues throughout the body

3. CREBBP is associated with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, bladder carcinoma, and lymphoma

3.1. The CREBBP is altered in 5.01% of all cancers.

3.1.1. Of 5.01%, 4.67% are mutations.

3.2. CREBBP mutations are found in approximately 30% of lymphomas and 15% of leukemia's, lung cancer, and bladder cancers.

4. Some diseases that are associated with the mutated version of the CREBBP gene include syndromic autism, or Rubinstein-Taybi syndrome. Also known as RTS.

4.1. CREBBP causes Rubinstein-Taybi syndrome due to CBP haploinsufficiency. This means that a single copy of a gene is not enough for it to function normally.

5. Located within the nucleus of cells

6. Is normally found in a complex with KMT2A and CREB1 due to its similarities.

7. Interactions associated with the CREBBP gene include CREB pathway, signaling by NOTCH 1, and activation of cAMP dependent PKA