FBLN1 Chromosome 22
Fibulin 1
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What This Gene Does
Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fibulins
Locus Type
gene with protein product
Location
22q13.31
Ensembl
ENSG00000077942
Associated Conditions (3)
FBLN1-related disorder
Autosomal recessive syndrome of syndactyly
undescended testes and central nervous system defects
Key Variants
RS144043387
Conflicting classifications of pathogenicity
FBLN1-related disorder, FBLN1-related disorder
Health Risk
RS147528917
Conflicting classifications of pathogenicity
Health Risk
RS397509432
Conflicting classifications of pathogenicity
Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects, Autosomal recessive syndrome of syndactyly
Health Risk
RS765918593
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144043387 | Health Risk | Conflicting classifications of pathogenicity | FBLN1-related disorder, FBLN1-related disorder |
| RS147528917 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS397509432 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects, Autosomal recessive syndrome of syndactyly |
| RS765918593 | Health Risk | Conflicting classifications of pathogenicity | — |