FKBP6 Chromosome 7
FKBP prolyl isomerase family member 6 (inactive)
Upload your DNA to see your personal genotypes for variants in FKBP6.
What This Gene Does
The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
FKBP prolyl isomerase family
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000077800
Associated Conditions (2)
Spermatogenic failure 77
Male infertility
Key Variants
RS2484553602
Likely pathogenic
Spermatogenic failure 77, Male infertility, Spermatogenic failure 77
Health Risk
RS368448146
Likely pathogenic
Spermatogenic failure 77, Male infertility, Spermatogenic failure 77
Health Risk
RS781881868
Likely pathogenic
Spermatogenic failure 77, Male infertility, Spermatogenic failure 77
Health Risk
RS1554549291
Pathogenic
Spermatogenic failure 77, Male infertility, Spermatogenic failure 77
Health Risk
RS782102648
Pathogenic
Male infertility, Spermatogenic failure 77, Male infertility
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2484553602 | Health Risk | Likely pathogenic | Spermatogenic failure 77, Male infertility, Spermatogenic failure 77 |
| RS368448146 | Health Risk | Likely pathogenic | Spermatogenic failure 77, Male infertility, Spermatogenic failure 77 |
| RS781881868 | Health Risk | Likely pathogenic | Spermatogenic failure 77, Male infertility, Spermatogenic failure 77 |
| RS1554549291 | Health Risk | Pathogenic | Spermatogenic failure 77, Male infertility, Spermatogenic failure 77 |
| RS782102648 | Health Risk | Pathogenic | Male infertility, Spermatogenic failure 77, Male infertility |