| Disease Name: |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type |
| ISA Name: |
ACys Amyloidosis
|
| Alternative Names: |
- Amyloidosis VI
- Amyloidosis, Cerebroarterial, Icelandic Type
- Autosomal Dominant Cerebrovascular Amyloidosis
- Cerebral Amyloid Angiopathy, Cst3-Related
- Cerebral Amyloid Angiopathy, Genetic
- Cerebral Amyloid Angiopathy, Hereditary
- Cerebral Hemorrhage, Hereditary, With Amyloidosis
- Familial Cerebral Amyloid Angiopathy
- HCHWA-I
- Hereditary Cerebral Amyloid Angiopathy
- Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
- Hereditary Cerebral Hemorrhage With Amyloidosis
- Icelandic Type Amyloidosis
- Icelandic Type Hereditary Cerebral Amyloid Angiopathy
- HCCAA-I
- Hereditary Cystatin C Amyloid Angiopathy
|
| MeSH Description: |
A familial disorder marked by amyloid deposits in the walls of small and medium sized blood vessels of cerebral cortex and meninges.
|
| Type: |
Amyloidosis
|
| ICD-10 Classification |
Diseases of the Circulatory System
|
| Tissue: |
Central Nervous System (CNS), Skin, Lymph Node, Spleen, Salivary Gland, Seminal Vesicle
|
| Precursor Proteins: |
| Primary Name: |
Cystatin-C
|
| Gene Name: |
CST3
|
| Alternative Protein Names: |
Cystatin-C (Cystatin-3) (Gamma-trace) (Neuroendocrine basic polypeptide) (Post-gamma-globulin)
|
| ISA Nomenclature: |
ACys
|
| Protein Length: |
146
|
| Precursor Protein Sequence: |
MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHDQPHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA
|
| UniProt AC: |
P01034
|
| UniProt ID: |
CYTC_HUMAN
|
| AmyPro: |
AP00022
|
|
| Co-deposited Proteins: |
| Primary Name: |
Serum amyloid P-component
|
| Gene Name: |
APCS
|
| Association Source: |
2436360
|
| Protein Names: |
Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]
|
| Protein Length: |
223
|
| Protein Sequence: |
MNKPLLWISVLTSLLEAFAHTDLSGKVFVFPRESVTDHVNLITPLEKPLQNFTLCFRAYSDLSRAYSLFSYNTQGRDNELLVYKERVGEYSLYIGRHKVTSKVIEKFPAPVHICVSWESSSGIAEFWINGTPLVKKGLRQGYFVEAQPKIVLGQEQDSYGGKFDRSQSFVGEIGDLYMWDSVLPPENILSAYQGTPLPANILDWQALNYEIRGYVIIKPLVWV
|
| UniProt AC: |
P02743
|
| UniProt ID: |
SAMP_HUMAN
|
|
