Gene Symbol | FERMT1 |
Entrez Gene ID | 55612 |
Full Name | fermitin family member 1 |
Synonyms | C20orf42,DTGCU2,KIND1,UNC112A,URP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | Kindler syndrome, 173650 (3) |