INSL3 Chromosome 19

Insulin like 3
7 variants 7 Health Risk

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What This Gene Does
This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Receptor ligands|Relaxin family"
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000248099
Associated Conditions (3)
Cryptorchidism
Inborn genetic diseases
Bilateral cryptorchidism
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS121912556 Health Risk Conflicting classifications of pathogenicity Cryptorchidism, Cryptorchidism
RS1187807999 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS757862609 Health Risk Likely pathogenic Bilateral cryptorchidism, Bilateral cryptorchidism
RS104894697 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
RS104894698 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
RS121912555 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
RS398122886 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
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