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SUFU - SUFU negative regulator of hedgehog signaling

Synonym(s) : PRO1280, SUFUH, SUFUXL
Previous symbols and names : suppressor of fused homolog (Drosophila)
Type : gene with protein product
Chromosomal location : 10q24.32
OMIM: 607035
HGNC: 16466
UniProtKB: Q9UMX1
Genatlas: SUFU
Ensembl: ENSG00000107882
IUPHAR-DB: -
Reactome: Q9UMX1
LOVD: SUFU

Diseases list

Disease-causing germline mutation(s) in Acrocallosal syndrome ORPHA:36
Disease-causing germline mutation(s) in Meningioma ORPHA:2495
Disease-causing germline mutation(s) (loss of function) in Gorlin syndrome ORPHA:377
Major susceptibility factor in Desmoplastic/nodular medulloblastoma ORPHA:251863
Major susceptibility factor in Familial multiple meningioma ORPHA:263662
Major susceptibility factor in Medulloblastoma with extensive nodularity ORPHA:251858
Candidate gene tested in Microform holoprosencephaly ORPHA:280200

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (87)

Research activities on this gene

Specialised Social Services

Eurordis directory

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