FREM1 is a 2,179 amino acid protein that contains one SLCtype lectin domain, one Calx-beta domain and twelve CSPG repeats. Localized to the basement membrane of embryonic epidermal cells and secreted into extracellular space, FREM1 functions as an extracellular matrix protein that is essential for epidermal adhesion during embryogenesis and may also participate in epidermal differentiation. FREM1 exists as multiple alternatively spliced isoforms and is encoded by a gene which maps to human chromosome 9. Chromosome 9 contains 145 million base pairs and comprises 4% of the human genome, encoding nearly 900 genes. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and Familial dysautonomia, are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster.
Function:
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
Subcellular Location:
Secreted; extracellular space; extracellular matrix; basement membrane. Localizes at the basement membrane zone of embryonic epidermis and hair follicles.
DISEASE:
Defects in FREM1 are the cause of bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608196]. A bifid nose is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. BNAR is an autosomal recessive disorder and patients usually present a bifid nose associated with renal and anorectal malformations.
Similarity:
Belongs to the FRAS1 family.
Contains 1 SLCtype lectin domain.
Contains 1 Calx-beta domain.
Contains 12 CSPG (NG2) repeats.
SWISS:
Q5H8C1
Gene ID:
158326
Database links:
Entrez Gene: 158326 Human
Entrez Gene: 329872 Mouse
Omim: 608944 Human
SwissProt: Q5H8C1 Human
SwissProt: Q684R7 Mouse
Unigene: 50850 Human
Unigene: 242337 Mouse
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