| Name | folliculin |
| Symbol | BHD |
| Aliases | FLCL; MGC17998; MGC23445 |
| Gene Product | - folliculin isoform 1
- folliculin isoform 2
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| Category | |
| UniGene |
Hs.396533
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. The function of its encoded protein is unknown. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in two transcript variants encoding different isoforms. |
| Expression | | EST (78 ESTs, 54 libraries) |
| Tissue | Breadth ? |
CPM ? |
| adipose |  | | | bone | | | | brain | | | | colon | | | | eye | | | | heart | | | | kidney |  | | | liver | | | | lung | | | | lymph node | | | | mammary gland | | | | muscle | | | | nervous | | | | ovary | | | | pancreas | | | | placenta | | | | prostate | | | | skin | | | | spleen | | | | synovium | | | | testis | | | | uncharacterized tissue | | |
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| Evidence | CpG Methylation in Kidney Neoplasms
- Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT, Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT, Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT Inactivation of BHD in sporadic renal tumors. Cancer Res 2003 Aug 1;63(15):4583-7.
LOH in Kidney Neoplasms
- Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT, Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT, Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT Inactivation of BHD in sporadic renal tumors. Cancer Res 2003 Aug 1;63(15):4583-7.
Mutation in Kidney Neoplasms
- da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER, da Silva NF, Gentle D, Hesson LB, Morton DG, Latif F, Maher ER Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadicrenal cell carcinoma and colorectal cancer. J Med Genet 2003 Nov;40(11):820-4.
- Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT, Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT, Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT Inactivation of BHD in sporadic renal tumors. Cancer Res 2003 Aug 1;63(15):4583-7.
Other key publications related to this gene
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