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Genes on the X chromosome

Genetics Home Reference includes these genes on the X chromosome:

  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • ALAS2: aminolevulinate, delta-, synthase 2
  • AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
  • AR: androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
  • ARX: aristaless related homeobox
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
  • BCOR: BCL6 co-repressor
  • BTK: Bruton agammaglobulinemia tyrosine kinase
  • CD40LG: CD40 ligand
  • CDKL5: cyclin-dependent kinase-like 5
  • CHM: choroideremia (Rab escort protein 1)
  • COL4A5: collagen, type IV, alpha 5 (Alport syndrome)
  • DCX: doublecortex; lissencephaly, X-linked (doublecortin)
  • DMD: dystrophin (muscular dystrophy, Duchenne and Becker types)
  • EDA: ectodysplasin A
  • EMD: emerin (Emery-Dreifuss muscular dystrophy)
  • F8: coagulation factor VIII, procoagulant component (hemophilia A)
  • F9: coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FLNA: filamin A, alpha (actin binding protein 280)
  • FMR1: fragile X mental retardation 1
  • FOXP3: forkhead box P3
  • G6PD: glucose-6-phosphate dehydrogenase
  • GJB1: gap junction protein, beta 1, 32kDa
  • GLA: galactosidase, alpha
  • GPC3: glypican 3
  • GPR143: G protein-coupled receptor 143
  • HPRT1: hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
  • IDS: iduronate 2-sulfatase (Hunter syndrome)
  • IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
  • IL2RG: interleukin 2 receptor, gamma (severe combined immunodeficiency)
  • KAL1: Kallmann syndrome 1 sequence
  • L1CAM: L1 cell adhesion molecule
  • MECP2: methyl CpG binding protein 2 (Rett syndrome)
  • MED12: mediator complex subunit 12
  • MID1: midline 1 (Opitz/BBB syndrome)
  • MTM1: myotubularin 1
  • NDP: Norrie disease (pseudoglioma)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NSDHL: NAD(P) dependent steroid dehydrogenase-like
  • OCRL: oculocerebrorenal syndrome of Lowe
  • OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OTC: ornithine carbamoyltransferase
  • PIGA: phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)
  • PLP1: proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
  • POU3F4: POU class 3 homeobox 4
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RS1: retinoschisis (X-linked, juvenile) 1
  • SHOX: short stature homeobox
  • SLC16A2: solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
  • SMC1A: structural maintenance of chromosomes 1A
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TAZ: tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)
  • TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • TRAPPC2: trafficking protein particle complex 2
  • WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
  • XK: X-linked Kx blood group (McLeod syndrome)

GeneCards provides a table of genes on the X chromosome and disorders related to those genesThis link leads to a site outside Genetics Home Reference..

 
Reviewed: November 2008
Published: January 23, 2009