Details for Gene NSMF

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 OLI511; OLI1114; OLI1292; OLI898; OLI1112; OLI512; OLI408; OLI390; OLI1335; OLI389
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

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