RGD Reference Report - Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. - Rat Genome Database

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Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

Authors: Ueki, Y  Tiziani, V  Santanna, C  Fukai, N  Maulik, C  Garfinkle, J  Ninomiya, C  DoAmaral, C  Peters, H  Habal, M  Rhee-Morris, L  Doss, JB  Kreiborg, S  Olsen, BR  Reichenberger, E 
Citation: Ueki Y, etal., Nat Genet. 2001 Jun;28(2):125-6.
RGD ID: 1599339
Pubmed: PMID:11381256   (View Abstract at PubMed)
DOI: DOI:10.1038/88832   (Journal Full-text)

Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cherubism  IAGP 1599339 RGD 
cherubism  ISOSH3BP2 (Homo sapiens)1599339; 1599339 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sh3bp2  (SH3-domain binding protein 2)

Genes (Mus musculus)
Sh3bp2  (SH3-domain binding protein 2)

Genes (Homo sapiens)
SH3BP2  (SH3 domain binding protein 2)


Additional Information