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Suppressor of fused homolog

The SUFU gene encodes a protein involved in hedgehog signaling pathway. Mutations cause medulloblastoma. Also hopomorphic recessive mutations are described with Joubert syndrome 32.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 32



Kogerman P et al. (1999) Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1.

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Aavikko M et al. (2012) Loss of SUFU function in familial multiple meningioma.

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Pospisilik JA et al. (2010) Drosophila genome-wide obesity screen reveals hedgehog as a determinant of brown versus white adipose cell fate.

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Brugières L et al. (2010) Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.

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Pastorino L et al. (2009) Identification of a SUFU germline mutation in a family with Gorlin syndrome.

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Lee DY et al. (2007) MicroRNA-378 promotes cell survival, tumor growth, and angiogenesis by targeting SuFu and Fus-1 expression.

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Lyle R et al. (2006) Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

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Svärd J et al. (2006) Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.

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Varjosalo M et al. (2006) Divergence of hedgehog signal transduction mechanism between Drosophila and mammals.

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Taylor MD et al. (2002) Mutations in SUFU predispose to medulloblastoma.

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Grimm T et al. (2001) Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.

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Bayani J et al. (2000) Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping.

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Stone DM et al. (1999) Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli.

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De Mori R et al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

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NCBI article

NCBI 51684 external link

OMIM.ORG article

Omim 607035 external link

Orphanet article

Orphanet ID 119896 external link

Wikipedia article

Wikipedia EN (SUFU) external link
Update: Aug. 14, 2020
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