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SETBP1 Defects in SETBP1 are the cause of Schinzel-Giedion midface retraction syndrome (SGMFS). It is a disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 18q12.3
Cellular Component: cytosol; nuclear body; nucleus
Molecular Function: protein binding
Disease: Mental Retardation, Autosomal Dominant 29; Schinzel-giedion Midface Retraction Syndrome
Reference #:  Q9Y6X0 (UniProtKB)
Alt. Names/Synonyms: DKFZp666J1210; KIAA0437; SEB; SET binding protein 1; SET-binding protein; SETBP; SETBP1
Gene Symbols: SETBP1
Molecular weight: 175,008 Da
Basal Isoelectric point: 9.76  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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