Orphanet: latent transforming growth factor beta binding protein 3

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LTBP3 - latent transforming growth factor beta binding protein 3

Synonym(s) :
Previous symbols and names : LTBP2
Type : gene with protein product
Chromosomal location : 11q13.1
OMIM: 602090
HGNC: 6716
UniProtKB: Q9NS15
Genatlas: LTBP3
GenCC: LTBP3
Ensembl: ENSG00000168056
IUPHAR-DB: -
Reactome: Q9NS15
LOVD: LTBP3

Diseases list

Disease-causing germline mutation(s) in Acromicric dysplasia ORPHA:969
Disease-causing germline mutation(s) in Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
Disease-causing germline mutation(s) in Geleophysic dysplasia ORPHA:2623
Disease-causing germline mutation(s) in NON RARE IN EUROPE: Hypodontia ORPHA:2227

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (25)

Research activities on this gene

Specialised Social Services

Eurordis directory

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