ITM2B

Name

integral membrane protein 2B

Type

protein-coding

Position

48,232,612–48,270,357 (+)

Aliases

ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2

Ensembl

ENSG00000136156

RefSeq RNA

NM_021999.5

RefSeq protein

NP_068839.1

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009].

via MyGene.info

Gene · Ensembl

integral membrane protein 2B

Symbol

ITM2B

Biotype

Protein coding

Organism

Homo sapiens

Location

13:48,232,612-48,270,357

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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