FREM2 is a 3,169 amino acid single-pass type I membrane protein that localizes to the extracellular side of the cell membrane and contains five Calx-beta domains, as well as 12 CSPG repeats. Functioning as an extracellular matrix protein, FREM2 is required for the maintenance of skin and renal epithelia and is also thought to be involved in epidermal adhesion events. Defects or mutations in the gene encoding FREM2, which maps to human chromsome 13, are associated with Fraser syndrome, a multisystem malformation that is characterized by ear abnormalities, congenital heart defects and cutaneous syndactyly. FREM2 exists as multiple alternatively spliced isoforms.
Function:
Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion.
Subcellular Location:
Cell membrane.
DISEASE:
Defects in FREM2 are a cause of Fraser syndrome (FRASS) [MIM:219000]. Fraser syndrome is a multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.
Similarity:
Belongs to the FRAS1 family.
Contains 5 Calx-beta domains.
Contains 12 CSPG (NG2) repeats.
SWISS:
Q5SZK8
Gene ID:
341128
Database links:
Entrez Gene: 341128 Human
Entrez Gene: 242022 Mouse
Entrez Gene: 310418 Rat
Omim: 608945 Human
SwissProt: Q5SZK8 Human
SwissProt: Q6NVD0 Mouse
Unigene: 253994 Human
Unigene: 38378 Mouse
Unigene: 63994 Rat
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