| Disease Name: |
Hypotrichosis Simplex of the Scalp |
| ISA Name: |
ACor Amyloidosis
|
| Alternative Names: |
- Hereditary hypotrichosis simplex of the scalp
- Hypotrichosis 2
- HYPT2
- Hypotrichosis simplex of the scalp 1
- HTSS1
- HTSS
- HSS
- Hypotrichosis, Spanish Type
|
| MeSH Description: |
No information available
|
| Type: |
Amyloidosis
|
| ICD-10 Classification |
Diseases of the Skin and Subcutaneous Tissue
|
| Tissue: |
Skin
|
| Precursor Proteins: |
| Primary Name: |
Corneodesmosin
|
| Gene Name: |
CDSN
|
| Alternative Protein Names: |
Corneodesmosin (S protein)
|
| ISA Nomenclature: |
ACor
|
| Protein Length: |
529
|
| Precursor Protein Sequence: |
MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTSGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYIPSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVGGSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQSAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPSAGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP
|
| UniProt AC: |
Q15517
|
| UniProt ID: |
CDSN_HUMAN
|
| AmyPro: |
AP00141
|
|
| Co-deposited Proteins: |
| Primary Name: |
Serum amyloid P-component
|
| Gene Name: |
APCS
|
| Association Source: |
20448140
|
| 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
|
|
