ITM2B wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ITM2B wild-type allele is located in the vicinity of 13q14.2 and is approximately 38 kb in length. This allele, which encodes integral membrane protein 2B, plays a role in the inhibition of amyloid-beta precursor protein cleavage. Missense mutations in the gene are associated with retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities. C-terminal extension mutations in the gene are associated with both the British and the Danish types of familial dementia.

**Synonyms:** - ABRI - ABri/ADan Amyloid Peptide Gene - BRI - BRI2 - BRICD2B - BRICHOS Domain Containing 2B Gene - E25B - E3-16 - FBD - Integral Membrane Protein 2B wt Allele - RDGCA - imBRI2