ITM2B

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ITM2B
Identifiers
Aliases ITM2B , ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2, RDGCA, integral membrane protein 2B
External IDs OMIM: 603904; MGI: 1309517; HomoloGene: 7388; GeneCards: ITM2B; OMA:ITM2B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021999

NM_008410

RefSeq (protein)

NP_068839

NP_032436

Location (UCSC) Chr 13: 48.23 – 48.27 Mb Chr 14: 73.6 – 73.62 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene. [5] [6]

ITM2B or BRI2 is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's.

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Familial Danish dementia is an extremely rare, neurodegenerative disease characterized by progressive cataracts, loss of hearing, cerebellar ataxia, paranoid psychosis, and dementia. Neuropathological hallmarks include extensive atrophy of all areas of the brain, chronic diffuse encephalopathy, and the presence of exceedingly thin and nearly totally demyelinated cranial nerves.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000136156 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022108 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pittois K, Deleersnijder W, Merregaert J (Nov 1998). "cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B". Gene. 217 (1–2): 141–9. doi:10.1016/S0378-1119(98)00354-0. PMID   9795190.
  6. "Entrez Gene: ITM2B integral membrane protein 2B".

Further reading