RGD Reference Report - The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). - Rat Genome Database

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The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).

Authors: Tsutsumi, S  Kamata, N  Vokes, TJ  Maruoka, Y  Nakakuki, K  Enomoto, S  Omura, K  Amagasa, T  Nagayama, M  Saito-Ohara, F  Inazawa, J  Moritani, M  Yamaoka, T  Inoue, H  Itakura, M 
Citation: Tsutsumi S, etal., Am J Hum Genet. 2004 Jun;74(6):1255-61. Epub 2004 Apr 29.
RGD ID: 11570566
Pubmed: PMID:15124103   (View Abstract at PubMed)
PMCID: PMC1182089   (View Article at PubMed Central)
DOI: DOI:10.1086/421527   (Journal Full-text)

Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p14.3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains. Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggests a role for GDD1 in the regulation of intracellular calcium homeostasis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ANO5Humangnathodiaphyseal dysplasia  IAGP DNA:missense mutations:exon:p.C356R and p.C356G (human)RGD 
Ano5Mousegnathodiaphyseal dysplasia  ISOANO5 (Homo sapiens)DNA:missense mutations:exon:p.C356R and p.C356G (human)RGD 
Ano5Ratgnathodiaphyseal dysplasia  ISOANO5 (Homo sapiens)DNA:missense mutations:exon:p.C356R and p.C356G (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ano5  (anoctamin 5)

Genes (Mus musculus)
Ano5  (anoctamin 5)

Genes (Homo sapiens)
ANO5  (anoctamin 5)


Additional Information