INSL6

Chr 9

insulin like 6

Also known as: RIF1

NCBI Gene: 11172 ENSG00000120210 UniProt: Q9Y581 OMIM: 606414

The protein encoded by INSL6 belongs to the insulin superfamily and may function in sperm development and fertilization, with expression restricted to testicular interstitial cells. Mutations in INSL6 cause autosomal recessive cryptorchidism with or without insulin-like factor 6 deficiency, affecting male reproductive development. The gene shows very low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.92

LOEUF

Mechanism· predicted