Amphiregulin

Alternative Names

  • AREG
  • Schwannoma-Derived Growth Factor
  • SDGF
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OMIM Number

104640

NCBI Gene ID

374

Uniprot ID

P15514

Length

9,870 bases

No. of Exons

6

No. of isoforms

1

Protein Name

Amphiregulin

Molecular Mass

27895 Da

Amino Acid Count

252

Genomic Location

chr4:74,445,135-74,455,004

Gene Map Locus
4q13.3

Description

The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [From RefSeq]

Epidemiology in the Arab World

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Other Reports

Lebanon

To understand the role of genomic variation in Autism Spectrum Disorder (ASD) specific to the Lebanese population, Soueid et al. 2016 carried out microarray analysis in 41 children with autism. 80 copy number variations (CNVs) were identified, of which 71% (57 CNVs) were inherited and 20% (16 CNVs) were de novo. Two CNVs – a duplication located on 16p11.2 (de novo CNV) and a deletion located on 2p16.3 (inherited CNV) – were classified as pathogenic. Another inherited CNV located on 1q43 (encompassing RYR2 gene) was classified as likely pathogenic. 15 CNVs of uncertain significance were also observed in the study group. The results were compared with controls and non-autistic developmentally delayed/intellectually disabled (DD/ID) patients. A CNV located at 10q11.22 was found to be common to all three groups. Additionally, Soueid et al. 2016 proposed PTDSS1 and AREG as potential ASD susceptibility genes.

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