Details for Gene MAMLD1

GENE NAME MAMLD1
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000013619
UNIPROT ACCESSION NUMBER Q13495
GO MOLECULAR FUNCTION ['molecular_function']
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-1266738; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-186712; R-HSA-1912408; R-HSA-1912422; R-HSA-1980143; R-HSA-1980145; R-HSA-210744; R-HSA-2122947; R-HSA-212436; R-HSA-2197563; R-HSA-2644602; R-HSA-2644603; R-HSA-2644606; R-HSA-2894858; R-HSA-2894862; R-HSA-350054; R-HSA-5663202; R-HSA-73857; R-HSA-74160; R-HSA-8878159; R-HSA-8941856; R-HSA-9012852; R-HSA-9013508; R-HSA-9013694; R-HSA-9013695; R-HSA-1266738; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-186712; R-HSA-1912408; R-HSA-1912422; R-HSA-1980143; R-HSA-1980145; R-HSA-210744; R-HSA-2122947; R-HSA-212436; R-HSA-2197563; R-HSA-2644602; R-HSA-2644603; R-HSA-2644606; R-HSA-2894858; R-HSA-2894862; R-HSA-350054; R-HSA-5663202; R-HSA-73857; R-HSA-74160; R-HSA-8878159; R-HSA-8941856; R-HSA-9012852; R-HSA-9013508; R-HSA-9013694; R-HSA-9013695
26 combinations linked to MAMLD1 OLI598; OLI1548; OLI603; OLI1576; OLI352; OLI1524; OLI1522; OLI344; OLI1547; OLI345; OLI350; OLI1551; OLI299; OLI347; OLI601; OLI602; OLI1578; OLI351; OLI604; OLI597; OLI349; OLI600; OLI599; OLI346; OLI343; OLI348
22 variants linked to MAMLD1 MAMLD1:c.1985A>G, p.Asn662Ser; MAMLD1:c.1986C>G, p.Ser662Arg; MAMLD1:c.1066C>T, p.Arg356Ter; MAMLD1:c.1261G>C, p.Ala421Pro; MAMLD1:c.454C>T, p.Gln152Ter; MAMLD1:c.1624C>T, p.Pro542Ser; MAMLD1:c.1000C>T, p.Pro334Ser; MAMLD1:c.370C>T, p.Gln124Ter; MAMLD1:c.2975C>T, p.Thr992Ile; MAMLD1:c.2780G>T, p.Arg927Leu; MAMLD1:c.1514T>C, p.Val505Ala; MAMLD1:c.1508C>A, p.Ala503Glu; MAMLD1:c.2190G>A, p.Ser730=; MAMLD1:c.1041C>A, p.His347Gln; MAMLD1:c.2170C>G, p.Leu724Val; MAMLD1:c.1500_1505dup, p.Gln501_Gln502dup; MAMLD1:c.*126C>T, ; MAMLD1:c.2573C>T, p.Pro858Leu; MAMLD1:c.530C>T, p.Thr177Met; MAMLD1:c.1804T>C, p.Ser602Pro; MAMLD1:c.2075C>T, p.Ala692Val; MAMLD1:c.1793G>A, p.Arg598His
4 diseases linked to MAMLD1 Non-syndromic posterior hypospadias; Disorder of sex development; 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development
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