APOA1 - Apolipoprotein A-I - human protein (Medical)
 
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APOA1 »  Apolipoprotein A-I  (ApoA-I)
 
Protein also known as:  Apolipoprotein A1. Cleaved into:  Proapolipoprotein A-I; Truncated apolipoprotein A-I.
Gene name:  APOA1
Family name: Apolipoprotein A1/A4/E
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 546 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III (PubMed3142462 and PubMed2123470). The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis.  
4
  • CuratedUniProtKB
Amyloidosis 8 (AMYL8) [MIM:105200]: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. The disease is caused by mutations affecting the gene represented in this entry.  
6
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Apolipoprotein A-I deficiency  425  
Familial renal amyloidosis due to Apolipoprotein AI variant  93560  
Primary systemic amyloidosis  314701  
Polymorphism 
Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680].  
  • CuratedUniProtKB
 

Keywords

Disease 
Amyloidosis  definition   [KW-1008]
Atherosclerosis  definition   [KW-0065]
Disease mutation  definition   [KW-0225]
Neuropathy  definition   [KW-0622]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 335
MIM: 107680 [ gene+phenotype ]
MIM: 105200
MIM: 604091
MIM: 205400
PharmGKB: PA49
Polymorphism databases
DMDM: 113992
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.