GENE NAME | NSMF |
CHROMOSOME | 9 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000165802 |
UNIPROT ACCESSION NUMBER | Q6X4W1 |
GO MOLECULAR FUNCTION | ['calcium-dependent protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
10 combinations linked to NSMF | OLI389; OLI511; OLI1292; OLI898; OLI1114; OLI1112; OLI512; OLI390; OLI408; OLI1335 |
10 variants linked to NSMF | NSMF:c.1165-14_22del, ; NSMF:c.1159-14_22del, ; NSMF:c.587G>A, p.Arg196His; NSMF:c.757G>A, p.Ala253Thr; NSMF:c.1160-13C>T, ; NSMF:c.877A>C, p.Thr293Pro; NSMF:c.533C>A, p.Thr178Asn; NSMF:c.421G>A, p.Ala141Thr; NSMF:c.1487A>T, p.Gln496Leu; NSMF:c.188C>T, p.Pro63Leu |
3 diseases linked to NSMF | Normosmic congenital hypogonadotropic hypogonadism; CHARGE syndrome; Kallmann syndrome |