Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
Nat Genet
; 36(6): 579-81, 2004 Jun.
Article
em En
| MEDLINE
| ID: mdl-15133511
ABSTRACT
Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Calcinose
/
N-Acetilgalactosaminiltransferases
/
Mutação
/
Proteínas de Neoplasias
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article