| Gene Symbol |
FBN1
|
| Entrez Gene |
2200
|
| Alt Symbol |
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
fibrillin 1
|
| Other Description |
fibrillin 15|fibrillin-1
|
| Swissprots |
D2JYH6 B2RUU0 P35555 Q15972 Q75N87
|
| Accessions |
AAB25244 ACZ58372 BAD16737 BAD16738 BAD16739 CCQ42969 CCQ42970 EAW77353 EAW77354 P35555 AB208840 BAD92077 AK304737 BAG65498 AK309616 BC094721 BC146854 AAI46855 L13923 AAB02036 W81203 X62008 CAB56534 X63556 CAA45118 NM_000138 NP_000129
|
| Function |
Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1- containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. {ECO:0000269|PubMed:15062093}.
|
| Subcellular Location |
Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:21989719}.
|