GENE NAME | DMXL2 |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000104093 |
UNIPROT ACCESSION NUMBER | Q8TDJ6 |
GO MOLECULAR FUNCTION | ['small GTPase binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
7 combinations linked to DMXL2 | OLI1377; OLI814; OLI849; OLI1392; OLI1406; OLI1401; OLI1425 |
7 variants linked to DMXL2 | DMXL2:c.3104C>G, p.Pro1035Arg; DMXL2:c.4878G>C, p.Gln1626His; DMXL2:c.4187C>T, p.Ser1396Phe; DMXL2:c.812C>G, p.Thr271Ser; DMXL2:c.7179_7181del, p.Val2394del; DMXL2:c.6067C>G, p.Pro2023Ala; DMXL2:c.6046G>A, p.Asp2016Asn |
4 diseases linked to DMXL2 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Kallmann syndrome |