Details for Gene MKKS

GENE NAME MKKS
CHROMOSOME 20
ENSEMBL ID None
ENTREZ ID ENSG00000125863
UNIPROT ACCESSION NUMBER Q9NPJ1
GO MOLECULAR FUNCTION ['unfolded protein binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'ATP hydrolysis activity', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922
24 combinations linked to MKKS OLI066; OLI087; OLI143; OLI171; OLI1436; OLI614; OLI1131; OLI224; OLI063; OLI175; OLI1435; OLI1449; OLI085; OLI1662; OLI084; OLI1658; OLI177; OLI226; OLI067; OLI170; OLI1450; OLI225; OLI1448; OLI1437
15 variants linked to MKKS MKKS:p.Ser236Pro; MKKS:p.Thr325Pro; MKKS:c.442C>T, p.Gln148Ter; MKKS:c.724G>T, p.Ala242Ser; MKKS:p.Ala488Thr; MKKS:c.926G>A, p.Arg309His; MKKS:c.1015A>G, p.Ile339Val; MKKS:c.110A>G, p.Tyr37Cys; MKKS:p.Cys499Ser; MKKS:c.1462G>A, p.Ala488Thr; MKKS:c.1232G>C, p.Gly411Ala; MKKS:c.432_435delTAGT, p.Phe144LeufsTer14; MKKS:c.748G>A, p.Gly250Arg; MKKS:c.1034G>A, p.Gly345Glu; MKKS:c.7C>T, p.Arg3Cys
3 diseases linked to MKKS Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome
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