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APP - amyloid beta (A4) precursor protein

ORPHA121393
Synonym(s)	Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease), peptidase nexin-II
Previous symbols and names	AD1, Alzheimer disease
Type	gene with protein product
Chromosomal location	21q21.2

OMIM	104760
HGNC	620
UniProtKB	P05067
Genatlas	APP
Ensembl	ENSG00000142192
IUPHAR-DB	-
Reactome	P05067

Diseases list

Disease-causing germline mutation(s) in Early-onset autosomal dominant Alzheimer disease
Disease-causing germline mutation(s) in Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Disease-causing germline mutation(s) in Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Disease-causing germline mutation(s) in Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Disease-causing germline mutation(s) in Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Disease-causing germline mutation(s) in Hereditary cerebral hemorrhage with amyloidosis, Italian type
Disease-causing germline mutation(s) in Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Assessed

Additional information
- Health care resources for this gene
  - Diagnostic tests (63)
- Research activities on this gene
- Orphanet Reports series
  - Prevalence of rare diseases
  - Orphan drugs in Europe
- Getting involved /informed

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