Gene Symbol | FREM2 |
Entrez Gene ID | 341640 |
Full Name | FRAS1 related extracellular matrix protein 2 |
Synonyms | FRASRS2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | Fraser syndrome 2, 617666 (3) |