Folliculin

Alternative Names

FLCN
FLCL
BHD gene
BHD

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Length

30,243 bases

No. of Exons

No. of isoforms

Protein Name

Folliculin

Molecular Mass

64473 Da

Amino Acid Count

579

Genomic Location

chr17:17,206,946-17,237,188

Gene Map Locus

17p11.2

Description

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [FromRefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_144997.7:c.1387T>C	Lebanon	chr17:17215230		Uncertain Significance	Breast Cancer	NG_008001.2:g.26959T>C; NM_144997.7:c.1387T>C; NP_659434.2:p.Tyr463His	770077517	409380

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=FLCN https://www.ncbi.nlm.nih.gov/gene/201163

Contributors

Pratibha Nair: 07.09.2020

Edit History

Pratibha Nair: 07.09.2020