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NOTCH1 notch 1

Also known as: hN1; AOS5; TAN1; AOVD1

Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Adams-Oliver syndrome 5
MedGen: C4014970OMIM: 616028GeneReviews: Not available
See labs
Aortic valve disorder
MedGen: C1260873OMIM: 109730GeneReviews: Not available
See labs

Genomic context

Location:
9q34.3
Sequence:
Chromosome: 9; NC_000009.12 (136494433..136545786, complement)
Total number of exons:
34

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