|
Gene id |
2200 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
FBN1 Gene UCSC Ensembl |
|
Aliases |
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2 |
|
Gene name |
fibrillin 1 |
|
Alternate names |
fibrillin-1, asprosin, epididymis secretory sperm binding protein, fibrillin 15, fibrillin-1 preproprotein, |
|
Gene location |
15q21.1 (48645708: 48408312) Exons: 66 NC_000015.10
|
|
Gene summary(Entrez) |
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an ex
|
|
OMIM |
134797 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04350 | TGF-beta signaling pathway | |
|
| Associated diseases |
References |
| Weill-Marchesani syndrome | KEGG:H00673 |
| Geleophysic dysplasia | KEGG:H00900 |
| Marfan syndrome | KEGG:H00653 |
| MASS phenotype | KEGG:H00661 |
| Ectopia lentis | KEGG:H00662 |
| Stiff skin syndrome | KEGG:H01173 |
| Acromicric dysplasia | KEGG:H02228 |
| Weill-Marchesani syndrome | KEGG:H00673 |
| Geleophysic dysplasia | KEGG:H00900 |
| Marfan syndrome | KEGG:H00653 |
| Ectopia lentis | KEGG:H00662 |
| Stiff skin syndrome | KEGG:H01173 |
| Acromicric dysplasia | KEGG:H02228 |
| Weill-Marchesani syndrome | PMID:12525539 |
| CREST syndrome | PMID:10395706 |
| Scoliosis | PMID:24833718 |
| Marfan syndrome | PMID:8882780 |
| Mixed connective tissue disease | PMID:10395706 |
| Aortic aneurysm | PMID:7762551 |
| systemic scleroderma | PMID:10395706 |
| Mitral valve prolapse | PMID:12918850 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|