Gene Symbol | FBN2 |
Entrez Gene ID | 2201 |
Full Name | fibrillin 2 |
Synonyms | CCA,DA9,EOMD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Contractural arachnodactyly, congenital, 121050 (3); Macular degeneration, early-onset, 616118 (3) |