Is NOTCH1 a transcription factor?

Neurogenic locus notch homolog protein 1 (Notch 1) is a protein encoded in humans by the NOTCH1 gene. Notch 1 is a single-pass transmembrane receptor. Chr….Notch 1.

RNA expression pattern
BioGPS More reference expression data

What does NOTCH1 stand for?

NOTCH1 is one of four known genes encoding the NOTCH family of proteins, a group of receptors involved in the Notch signaling pathway. NOTCH proteins are characterized by N-terminal EGF-like repeats followed by LNR domains which form a complex with ligands to prevent signaling.

What is Notch mutation?

NOTCH proteins have been implicated in multiple cellular functions, such as stem cell maintenance and cell fate determination. Initially identified as proto-oncogenes because they promote the development of certain types of leukemia, inactivating mutations of NOTCH were later reported.

What is a Notch mutation?

Notch receptors constitute mutational hot spots in cancer cell lines. (A-H) Mutation frequencies of NOTCH1-4 (A) and proteins that are well known in the pathology of cancer (B-E), as well as house-keeping proteins that do not have an established role in tumor formation (F-H).

What does the Notch 3 gene do?

The NOTCH3 gene provides instructions for making a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section that spans the cell membrane, and another end (the extracellular end) that projects from the outer surface of the cell.

What is a notch mutation?

How do you test for CADASIL?

A genetic blood test is considered the gold standard for diagnosing since it is caused by a genetic mutation, or mistake, on the NOTCH3 gene. There are multiple variations of the NOTCH3 mutation that cause CADASIL. However, all affected individuals in the same family will carry the same mutation.

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