FBLIM1 Chromosome 1
Filamin binding LIM protein 1
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What This Gene Does
This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
LIM domain containing
Locus Type
gene with protein product
Location
1p36.21
Ensembl
ENSG00000162458
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146575757 | Health Risk | Conflicting classifications of pathogenicity | — |