GENE NAME | IGSF10 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000152580 |
UNIPROT ACCESSION NUMBER | Q6WRI0 |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
6 combinations linked to IGSF10 | OLI1408; OLI1233; OLI1387; OLI556; OLI649; OLI1395 |
6 variants linked to IGSF10 | IGSF10:c.5477G>A, p.Gly1862Asp; IGSF10:c.1188A>C, p.Glu396Asp; IGSF10:c.352C>T, p.Arg118Ter; IGSF10:c.1786C>T, p.His596Tyr; IGSF10:c.4631C>T, p.Ser1544Phe; IGSF10:c.7853C>T, p.Thr2618Met |
5 diseases linked to IGSF10 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Normosmic congenital hypogonadotropic hypogonadism; Recurrent Pregnancy Loss; Kallmann syndrome |