BNC1 Chromosome 15
Basonuclin zinc finger protein 1
Upload your DNA to see your personal genotypes for variants in BNC1.
What This Gene Does
This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging. [provided by RefSeq, Sep 2020]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Basonuclin zinc finger proteins"
Locus Type
gene with protein product
Location
15q25.2
Ensembl
ENSG00000169594
Associated Conditions (3)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Premature ovarian failure
Premature ovarian failure 16
Key Variants
RS2547957057
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS2547958432
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS760137127
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS1596591051
Pathogenic
Premature ovarian failure 16, Premature ovarian failure 16
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2547957057 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2547958432 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS760137127 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS1596591051 | Health Risk | Pathogenic | Premature ovarian failure 16, Premature ovarian failure 16 |