Serum Amyloid A1

Alternative Names

  • SAA1
  • Amyloid A, Serum
  • SAA
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OMIM Number

104750

NCBI Gene ID

6288

Uniprot ID

P0DJI8

Length

3,704 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Serum amyloid A-1 protein

Molecular Mass

13532 Da

Amino Acid Count

122

Genomic Location

chr11:18,266,263-18,269,966

Gene Map Locus
11p15.1

Description

This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
Alpha NM_199161.5:c.[209C>T;224T>C]Jordan; LebanonNC_000011.10:g.[18269312C>T;18269327T>C]Likely PathogenicFamilial Mediterranean FeverNG_021330.1:g.[8052C>T;8067T>C]; Alpha NM_199161.5:c.[209C>T;224T>C]; NP_954630.2:p.[Ala70Val;Val75Ala]1136743 113674718108
Beta NM_199161.5:c.[209=;224=]Jordan; LebanonNC_000011.10:g.[18269312=;18269327=]Likely PathogenicFamilial Mediterranean FeverNG_021330.1:g.[8052=;8067=]; Beta NM_199161.5:c.[209=;224=]; NP_954630.2:p.[Ala70=;Val75=]1136743 113674718108
Gamma NM_199161.5:c.[209=;224T>C]Jordan; LebanonNC_000011.10:g.[18269312=;18269327T>C]Likely PathogenicFamilial Mediterranean FeverNG_021330.1:g.[8052=;8067T>C]; NM_199161.5:c.[209=;224T>C]; NP_954630.2:p.[Ala70=;Val75Ala]1136743 113674718108
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