Orphanet: latent transforming growth factor beta binding protein 2

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LTBP2 - latent transforming growth factor beta binding protein 2

Synonym(s) :
Previous symbols and names : C14orf141, LTBP3, chromosome 14 open reading frame 141
Type : gene with protein product
Chromosomal location : 14q24.3
OMIM: 602091
HGNC: 6715
UniProtKB: Q14767
Genatlas: LTBP2
GenCC: LTBP2
Ensembl: ENSG00000119681
IUPHAR-DB: -
Reactome: Q14767
LOVD: LTBP2

Diseases list

Disease-causing germline mutation(s) in Congenital glaucoma ORPHA:98976
Disease-causing germline mutation(s) in Glaucoma secondary to spherophakia/ectopia lentis and megalocornea ORPHA:238763
Disease-causing germline mutation(s) in Weill-Marchesani syndrome ORPHA:3449

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (77)

Research activities on this gene

Specialised Social Services

Eurordis directory

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