| | | also see: sialic acid storage disease, nervous system lysosomal storage diseases, glycogen storage disease type ii, fucosidosis, nesidioblastosis, lactose intolerance, galactosemias, sphingolipidoses, inborn errors carbohydrate metabolism, metabolic bone diseases |
| synonym: ganglioside sialidase deficiency disease, inclusion cell disease, mucolipidosis i, mucolipidosis ii, mucolipidosis iii, mucolipidosis iv, mucolipidosis type i, mucolipidosis type ii, mucolipidosis type iii, mucolipidosis type iv, psuedo hurler disease, type i mucolipidosis, type ii mucolipidosis, type iii mucolipidosis, type iv mucolipidosis |
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| Top genes for mucolipidoses : |
| ACP2 human also called: lysosomal acid phosphatase 2, acp2 publications |
| ARHGEF18 human also called: mgc15913, p114 rho gef, arhgef18, kiaa0521, rho specific guanine nucleotide exchange factor p114 publications |
| CD320 human also called: 8d6, 8d6 antigen, 8d6a, cd320 publications |
| Ctsl mouse also called: furless, 1190035f06rik, nackt, cathepsin l, ctsl, nkt, cat l, major excreted protein, mep publications |
| GM2A human also called: cerebroside sulfate activator protein, gm2 ganglioside activator, gm2a, sphingolipid activator protein 3, sap3 publications |
| GNPTG human also called: gnptag, gnptg, nacetylglucosamine1 phosphotransferase gamma subunit, glcnac phosphotransferase gamma subunit, lp2537 publications |
| Gnpta mouse also called: gnpta, udpn acetylglucosamine lysosomal enzyme nacetylglucosamine phosphotransferase, gpt publications |
| Gnptg mouse also called: mdcp1, mannose6 phosphate receptor domain, 6430527n14rik, tcomplex expressed 7, au067744, gnptg, m6pr domain containing protein 1, au067667, tce7, a830081f19 publications |
| Igf2r mouse also called: m6p igf2r, mannose6 phosphate receptor cation independent, mpr300, insulin like growth factor 2 receptor, cation independent mpr, ai661837, igfii cimpr, cd222, igf2r, cation independent mannose 6phosphate receptor, cimpr publications |
| M6PR human also called: 46kda mannose 6phosphate receptor, m6pr, mpr46, cdmpr, mr 46 000 man6pr, cation dependent mannose6 phosphate receptor, smpr publications |
| M6pr mouse also called: mannose6 phosphate receptor cation dependent, m6pr, mpr46, cdmpr publications |
| MAN2B1 human also called: lysosomal acid alpha mannosidase, manb, man2b1, mannosidase alpha b lysosomal, laman, mannosidase alpha class 2b member 1 publications |
| MAP2K7 human also called: jnkk2, jnk kinase 2, mkk7, jnk activating kinase 2, prkmk7, mitogen activated protein kinase kinase 7, dual specificity mitogen activated protein kinase kinase 7, map2k7, map kinase kinase 7, mapkk7, cjun nterminal kinase kinase 2 publications |
| MCOLN1 human also called: trp ml1, mucolipin 1, mstp080, mst080, mcoln1, mliv, mucolipidin, ml4 publications |
| NEU1 human also called: neuraminidase, neu, neuraminidase 1, exo alpha sialidase, neurominidase, neu1, sial1, lysosomal sialidase publications |
| Neu1 mouse also called: aa407268, aa407316, sialidase 1, neuraminidase 1 protein, neuraminidase 1, aglp, hlab associated transcript 7, apl, neu1, map2, lysosomal sialidase, bat7 publications |
| Ppgb mouse also called: ppgb, ppca, cathepsin a, au019505, protective protein for beta galactosidase publications |
| SLC44A4 human also called: flj14491, ng22, ctl4, choline transporter like protein 4, c6orf29, slc44a4 publications |
| SMPD1 human also called: npd, smpd1, acid sphingomyelinase, asm, sphingomyelin phosphodiesterase 1 acid lysosomal publications |
| SNAPC2 human also called: snap45, small nuclear rna activating complex polypeptide 2 45kda, ptfdelta, snapc2 publications |
| TNF human also called: otthump00000037669, cachectin, tnf superfamily member 2, tnf alpha, tumor necrosis factor alpha, tnfsf2, dif, tnfa, apc1, tnf macrophage derived, tnf, tnf monocyte derived publications |
| Tnf mouse also called: tnfsf1a, tnf alpha, cytokine, tumor necrosis factor alpha, tnfsf2, dif, tnfalpha, tnfa, tnf publications |
| ZNF358 human also called: zinc finger protein 358, zfend, znf358, flj10390 publications |
| experts/researchers: more are being identified and will be added. |
| G Bach |
| Top webpages for mucolipidoses: more are being identified and will be added. |
1. mucolipidoses fact sheet: national institute of neurological ...
npp.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidos ... |
2. mucolipidoses fact sheet: national institute of neurological ...
npp.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidos ... |
3. mucolipidoses information page: national institute of neurol ...
npp.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm |
4. mucolipidoses information page: national institute of neurol ...
npp.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses_pr.h ... |
5. mucolipidoses : sites et documents francophones
www.chu-rouen.fr/ssf/pathol/mucolipidoses.html |
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