ITM2B wt Allele

Preferred Label : ITM2B wt Allele;

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

NCIt 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.;

GenBank Accession Number : AF092128;

Details

Origin ID

C201835;

OMIM relation
- Integral membrane protein 2b [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q14.2 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Nervous System Development [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

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