NOTCH3

SNP Table

variant	genotype	frequency	risk allele
rs35769976
rs10408676
rs1034616333
rs10406745
rs112197217
rs114207045
rs115029695
rs115872852
rs11670799
rs1167405466
rs1242208956
rs1257168747
rs1344432803
rs1384597990
rs142778401
rs142787620
rs143385744
rs143764521
rs145069047
rs147373451

27405 associated SNPs in total

Get Your Variants

Find on This Page

Summary GHR Function Frequently Asked Questions

Summary

The gene codes for a protein, notch 3. Mutations cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [R].

Protein names

notch receptor 3 [Source:HGNC Symbol;Acc:HGNC:7883]

GHR Function

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. The NOTCH3 protein is called a receptor protein because certain other proteins, called ligands, attach (bind) to the extracellular end of NOTCH3, fitting like a key into a lock. This binding causes detachment of the intracellular end of the NOTCH3 protein, called the NOTCH3 intracellular domain, or NICD. The NICD enters the cell nucleus and helps control the activity (transcription) of other genes.

The NOTCH3 protein plays a key role in the function and survival of vascular smooth muscle cells, which are muscle cells that surround blood vessels. This protein is thought to be essential for the maintenance of blood vessels, including those that supply blood to the brain.

More Information

cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy More than 270 mutations in the NOTCH3 gene have been found to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CADASIL. Almost all of these mutations change a single protein building block (amino acid) in the NOTCH3 protein. The amino acid involved in most mutations is cysteine. The addition or deletion of a cysteine molecule in a certain area of the NOTCH3 protein, known as the EGF-like domain, presumably affects NOTCH3 function in vascular smooth muscle cells. Disruption of NOTCH3 functioning can lead to the self-destruction (apoptosis) of these cells. Damage to vascular smooth muscle cells is thought to cause recurrent strokes and other signs and symptoms of CADASIL. lateral meningocele syndrome At least six NOTCH3 gene mutations have been identified in people with lateral meningocele syndrome. This disorder affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine. The meningoceles associated with this disorder may damage the nerves that spread from the spine to the rest of the body. The mutations that cause lateral meningocele syndrome occur at the end of the gene in a region known as exon 33. These gene mutations result in a NOTCH3 protein with an abnormally short (truncated) NICD. The shortened protein is missing the portion that normally causes the breakdown of the NICD after it has performed its function in the cell nucleus and is no longer needed. As a result, the presence of the NICD in the cell is prolonged, and the protein continues to affect the activity of other genes. However, the result of this prolonged NICD activity and its connection to the specific features of lateral meningocele syndrome are not well understood.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

Unlock Personalized Results And So Much More!

Shipping Worldwide

30-Days Money-Back Guarantee*

HSA/FSA Eligible

Essential Bundle

SelfDecode DNA Kit

24/7 AI Health Coach
1250+ Comprehensive DNA Health Reports
Personalized Diet, Supplement, & Lifestyle Recommendations
Lifestyle Risk Assessments
Unlimited access to Labs Analyzer

$418

$376

Men's Health Month 10% Off

Essential

Bundle

Everything in essential
SelfDecode DNA Kit
Methylation Pathway
+130 Medical Reports
25+ Longevity Screener Risk Assessments

Odds ratios to evaluate your risk for 25+ medical conditions
10-year risk scores to prioritize health conditions
Lifetime risk scores to plan for long-term health

$667

$566

Men's Health Month 15% Off

Men's Health Month 30% Off

Ultimate Bundle

Everything in essential+
SelfDecode DNA Kit
Medication Check (PGx testing) for 50+ medications
40+ Family Planning (Carrier Status) Reports
Ancestry Percentages
Mitochondrial Ancestry

$894

$625

* SelfDecode DNA kits are non-refundable. If you choose to cancel your plan within 30 days you will not be refunded the cost of the kit.

We will never share your data

We follow HIPAA and GDPR policies

We have World-Class Encryption & Security

People Love Us

Rated 4.7/5 from 750+ reviews

People Trust Us

200,000+ users, 2,000+ doctors & 80+ businesses

SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode strongly encourages those who use our service to consult and work with an experienced healthcare provider as our services are not to replace the relationship with a licensed doctor or regular medical screenings.

Policies

About

Support
Our Team
Affiliate Program
Privacy
Media