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INSL3

Function

Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor.

Involvement in disease

Cryptorchidism

CRYPTO

One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer.

None

The disease may be caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the insulin family.

Tissue Specificity

Expressed in prenatal and postnatal Leydig cells. Found as well in the corpus luteum, trophoblast, fetal membranes and breast.

Cellular localization

Alternative names

RLF, RLNL, INSL3, Insulin-like 3, Leydig insulin-like peptide, Relaxin-like factor, Ley-I-L

swissprot:P51460 entrezGene:3640 omim:146738