LTBP1 Chromosome 2
Latent transforming growth factor beta binding protein 1
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What This Gene Does
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Latent transforming growth factor beta binding proteins
Locus Type
gene with protein product
Location
2p22.3
Ensembl
ENSG00000049323
Associated Conditions (3)
Cutis laxa
autosomal recessive
type 2E
Key Variants
RS148622840
Conflicting classifications of pathogenicity
Health Risk
RS1441358067
Likely pathogenic
Cutis laxa, autosomal recessive, type 2E
Health Risk
RS2150575155
Likely pathogenic
Cutis laxa, autosomal recessive, type 2E
Health Risk
RS2482951128
Likely pathogenic
Health Risk
RS2149767574
Pathogenic
Cutis laxa, autosomal recessive, type 2E
Health Risk
RS2150084747
Pathogenic
Cutis laxa, autosomal recessive, type 2E
Health Risk
RS2150785723
Pathogenic
Cutis laxa, autosomal recessive, type 2E
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148622840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1441358067 | Health Risk | Likely pathogenic | Cutis laxa, autosomal recessive, type 2E |
| RS2150575155 | Health Risk | Likely pathogenic | Cutis laxa, autosomal recessive, type 2E |
| RS2482951128 | Health Risk | Likely pathogenic | — |
| RS2149767574 | Health Risk | Pathogenic | Cutis laxa, autosomal recessive, type 2E |
| RS2150084747 | Health Risk | Pathogenic | Cutis laxa, autosomal recessive, type 2E |
| RS2150785723 | Health Risk | Pathogenic | Cutis laxa, autosomal recessive, type 2E |