ITM2B

ITM2B is a gene that encodes the Integral Membrane Protein 2B in humans. This protein is a member of the BRI2 family and is found in various tissues in the body. It is particularly abundant in the brain and is believed to play a crucial role in the functioning of the nervous system.

Function

The protein encoded by the ITM2B gene is a type II transmembrane protein. It is located in the membrane of the endoplasmic reticulum, where it is involved in protein processing. The protein is also found in the plasma membrane, where it may play a role in synaptic transmission.

Clinical significance

Mutations in the ITM2B gene have been associated with two forms of dementia: Familial British dementia and Familial Danish dementia. These are rare forms of dementia characterized by progressive neurological deterioration, cerebral amyloid angiopathy, and the accumulation of amyloid plaques in the brain.

Familial British dementia

Familial British dementia (FBD) is a rare form of autosomal dominant dementia caused by a mutation in the ITM2B gene. The mutation leads to the production of an abnormal version of the BRI2 protein, which forms deposits in the brain and leads to the symptoms of the disease.

Familial Danish dementia

Familial Danish dementia (FDD) is another rare form of dementia caused by a different mutation in the ITM2B gene. Like FBD, FDD is characterized by the accumulation of amyloid plaques in the brain, but it also involves the formation of neurofibrillary tangles, which are another hallmark of Alzheimer's disease.

See also

• BRI2
• Dementia
• Alzheimer's disease

References

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