Details for: ARSA
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 101.5782
Cell Significance Index: -15.8000 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 62.1739
Cell Significance Index: -15.7700 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 37.9316
Cell Significance Index: -15.4100 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 35.1180
Cell Significance Index: -16.5800 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 33.0978
Cell Significance Index: -17.0300 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 24.7235
Cell Significance Index: -16.5900 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 16.1614
Cell Significance Index: -15.4300 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 13.2527
Cell Significance Index: -16.3400 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 5.6591
Cell Significance Index: -15.1600 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 4.1915
Cell Significance Index: -16.5400 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 2.8192
Cell Significance Index: -6.1700 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.5757
Cell Significance Index: 256.2800 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 1.3314
Cell Significance Index: 155.1700 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.2663
Cell Significance Index: 59.0400 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.0314
Cell Significance Index: 112.1800 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.9674
Cell Significance Index: 58.0800 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.9645
Cell Significance Index: 13.1600 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.9342
Cell Significance Index: 48.5300 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.8807
Cell Significance Index: 19.0800 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.5902
Cell Significance Index: 40.8200 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.5832
Cell Significance Index: 15.8800 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.5403
Cell Significance Index: 102.8300 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.5349
Cell Significance Index: 52.9100 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.5337
Cell Significance Index: 4.9200 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.5213
Cell Significance Index: 15.3100 - Cell Name: peg cell (CL4033014)
Fold Change: 0.5008
Cell Significance Index: 11.5700 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.4679
Cell Significance Index: 34.8700 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4185
Cell Significance Index: 18.9700 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.4027
Cell Significance Index: 51.6300 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.3947
Cell Significance Index: 11.0300 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.3761
Cell Significance Index: 5.6400 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.2717
Cell Significance Index: 33.4100 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.2633
Cell Significance Index: 47.4600 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.2544
Cell Significance Index: 51.0400 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.2248
Cell Significance Index: 122.7900 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.1834
Cell Significance Index: 4.9200 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.1524
Cell Significance Index: 4.3900 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 0.1510
Cell Significance Index: 2.7900 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.1417
Cell Significance Index: 4.9800 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.0965
Cell Significance Index: 2.5800 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.0916
Cell Significance Index: 5.9100 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0797
Cell Significance Index: 15.8200 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.0740
Cell Significance Index: 3.4800 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0453
Cell Significance Index: 20.0500 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0414
Cell Significance Index: 7.0700 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0382
Cell Significance Index: 13.7100 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.0196
Cell Significance Index: 2.3100 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.0195
Cell Significance Index: 2.5200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0160
Cell Significance Index: 2.2000 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0023
Cell Significance Index: 4.2400 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0019
Cell Significance Index: 0.0400 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0026
Cell Significance Index: -1.9800 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0058
Cell Significance Index: -10.7300 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0086
Cell Significance Index: -13.1800 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0122
Cell Significance Index: -16.5600 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0130
Cell Significance Index: -1.3300 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0141
Cell Significance Index: -10.4300 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0145
Cell Significance Index: -9.1900 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0153
Cell Significance Index: -11.2100 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0226
Cell Significance Index: -1.6000 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0249
Cell Significance Index: -14.0200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0281
Cell Significance Index: -12.7400 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0307
Cell Significance Index: -19.1400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0434
Cell Significance Index: -12.4900 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0461
Cell Significance Index: -3.5400 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.0541
Cell Significance Index: -2.8200 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0637
Cell Significance Index: -1.7000 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0743
Cell Significance Index: -2.3800 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0743
Cell Significance Index: -8.5100 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0843
Cell Significance Index: -12.2600 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0845
Cell Significance Index: -17.7900 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.1029
Cell Significance Index: -1.0700 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.1111
Cell Significance Index: -2.3100 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.1114
Cell Significance Index: -7.0200 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1504
Cell Significance Index: -15.6600 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1588
Cell Significance Index: -8.3400 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1594
Cell Significance Index: -10.7200 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2032
Cell Significance Index: -16.0900 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.2239
Cell Significance Index: -13.7600 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.2249
Cell Significance Index: -12.6200 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.2324
Cell Significance Index: -6.1100 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.2371
Cell Significance Index: -14.5400 - Cell Name: keratocyte (CL0002363)
Fold Change: -0.2433
Cell Significance Index: -3.8600 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.2821
Cell Significance Index: -8.0500 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.2842
Cell Significance Index: -12.5700 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.2996
Cell Significance Index: -6.5600 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.3094
Cell Significance Index: -8.8700 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.3112
Cell Significance Index: -7.7800 - Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: -0.3213
Cell Significance Index: -2.1000 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.3346
Cell Significance Index: -12.6700 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.3358
Cell Significance Index: -5.6200 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.3440
Cell Significance Index: -12.0500 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.3544
Cell Significance Index: -10.4400 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.3593
Cell Significance Index: -7.5200 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.3694
Cell Significance Index: -7.9000 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3696
Cell Significance Index: -11.7700 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.3778
Cell Significance Index: -12.3700 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.3842
Cell Significance Index: -13.3500 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.3909
Cell Significance Index: -14.3500 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.3934
Cell Significance Index: -19.8800
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 2484454210
Symbol: ARSA_HUMAN
Name: Arylsulfatase A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2562955
Title: Cloning and expression of human arylsulfatase A.
PubMed ID: 2562955
PubMed ID: 1975241
Title: Structure of the arylsulfatase A gene.
PubMed ID: 1975241
PubMed ID: 19262745
Title: Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
PubMed ID: 19262745
PubMed ID: 15461802
Title: A genome annotation-driven approach to cloning the human ORFeome.
PubMed ID: 15461802
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 10591208
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 1352993
Title: Proteolytic processing of human lysosomal arylsulfatase A.
PubMed ID: 1352993
PubMed ID: 7628016
Title: A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
PubMed ID: 7628016
PubMed ID: 9342345
Title: Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.
PubMed ID: 9342345
PubMed ID: 15146462
Title: Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
PubMed ID: 15146462
DOI: 10.1002/humu.20040
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 24294900
Title: A new analytical bench assay for the determination of arylsulfatase a activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis.
PubMed ID: 24294900
DOI: 10.1021/ac4023555
PubMed ID: 9521684
Title: Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
PubMed ID: 9521684
DOI: 10.1021/bi9714924
PubMed ID: 11124905
Title: Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis.
PubMed ID: 11124905
PubMed ID: 12888274
Title: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.
PubMed ID: 12888274
PubMed ID: 16368756
Title: A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
PubMed ID: 16368756
PubMed ID: 7866401
Title: Molecular genetics of metachromatic leukodystrophy.
PubMed ID: 7866401
PubMed ID: 2574462
Title: Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
PubMed ID: 2574462
PubMed ID: 1673291
Title: Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
PubMed ID: 1673291
PubMed ID: 1678251
Title: Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
PubMed ID: 1678251
PubMed ID: 1670590
Title: Molecular basis of different forms of metachromatic leukodystrophy.
PubMed ID: 1670590
PubMed ID: 1353340
Title: Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
PubMed ID: 1353340
PubMed ID: 8101038
Title: High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
PubMed ID: 8101038
PubMed ID: 8101083
Title: Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
PubMed ID: 8101083
PubMed ID: 8095918
Title: Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
PubMed ID: 8095918
DOI: 10.1007/bf00230227
PubMed ID: 7902317
Title: An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
PubMed ID: 7902317
DOI: 10.1007/bf00216449
PubMed ID: 7906588
Title: Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
PubMed ID: 7906588
PubMed ID: 8104633
Title: An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
PubMed ID: 8104633
PubMed ID: 7909527
Title: Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.
PubMed ID: 7909527
DOI: 10.1007/bf00201666
PubMed ID: 7825603
Title: Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
PubMed ID: 7825603
PubMed ID: 7860068
Title: A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
PubMed ID: 7860068
DOI: 10.1007/bf00209402
PubMed ID: 7581401
Title: Identification of seven novel mutations associated with metachromatic leukodystrophy.
PubMed ID: 7581401
PubMed ID: 8891236
Title: Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
PubMed ID: 8891236
PubMed ID: 8723680
Title: Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
PubMed ID: 8723680
DOI: 10.1002/(sici)1098-1004(1996)7:4<311::aid-humu4>3.0.co;2-b
PubMed ID: 9272717
Title: A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
PubMed ID: 9272717
PubMed ID: 9090526
Title: Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
PubMed ID: 9090526
DOI: 10.1002/(sici)1098-1004(1997)9:3<234::aid-humu4>3.0.co;2-7
PubMed ID: 9490297
Title: A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
PubMed ID: 9490297
PubMed ID: 9600244
Title: Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
PubMed ID: 9600244
PubMed ID: 9744473
Title: The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.
PubMed ID: 9744473
DOI: 10.1002/(sici)1098-1004(1998)12:4<238::aid-humu3>3.0.co;2-b
PubMed ID: 9452102
Title: Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
PubMed ID: 9452102
PubMed ID: 9819708
Title: Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.
PubMed ID: 9819708
PubMed ID: 9888390
Title: Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
PubMed ID: 9888390
DOI: 10.1002/(sici)1098-1004(1999)13:1<61::aid-humu7>3.0.co;2-h
PubMed ID: 10220151
Title: Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC.
PubMed ID: 10220151
DOI: 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu14>3.0.co;2-9
PubMed ID: 10477432
Title: Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
PubMed ID: 10477432
DOI: 10.1002/(sici)1098-1004(1999)14:3<240::aid-humu7>3.0.co;2-l
PubMed ID: 10533072
Title: Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
PubMed ID: 10533072
DOI: 10.1002/(sici)1098-1004(199911)14:5<447::aid-humu12>3.0.co;2-1
PubMed ID: 10381328
Title: Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
PubMed ID: 10381328
PubMed ID: 10751093
Title: Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
PubMed ID: 10751093
DOI: 10.1002/(sici)1096-8628(20000306)91:1<68::aid-ajmg13>3.0.co;2-g
PubMed ID: 11061266
Title: Adult-onset MLD: a gene mutation with isolated polyneuropathy.
PubMed ID: 11061266
PubMed ID: 11020646
Title: Variable onset of metachromatic leukodystrophy in a Vietnamese family.
PubMed ID: 11020646
PubMed ID: 11456299
Title: Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
PubMed ID: 11456299
DOI: 10.1002/ana.1076
PubMed ID: 11941485
Title: Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
PubMed ID: 11941485
PubMed ID: 12503099
Title: Biochemical characterization of two (C300F, P425T) arylsulfatase A missense mutations.
PubMed ID: 12503099
DOI: 10.1002/ajmg.a.10822
PubMed ID: 12788103
Title: Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
PubMed ID: 12788103
PubMed ID: 14517960
Title: Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
PubMed ID: 14517960
DOI: 10.1002/humu.9190
PubMed ID: 14680985
Title: Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
PubMed ID: 14680985
PubMed ID: 15326627
Title: Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
PubMed ID: 15326627
DOI: 10.1002/ajmg.a.30118
PubMed ID: 15026521
Title: Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
PubMed ID: 15026521
PubMed ID: 15710861
Title: Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
PubMed ID: 15710861
PubMed ID: 18693274
Title: Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
PubMed ID: 18693274
DOI: 10.1002/humu.20851
PubMed ID: 19606494
Title: Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
PubMed ID: 19606494
DOI: 10.1002/humu.21093
PubMed ID: 20339381
Title: Molecular bases of metachromatic leukodystrophy in Polish patients.
PubMed ID: 20339381
DOI: 10.1038/jhg.2010.25
PubMed ID: 21265945
Title: Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
PubMed ID: 21265945
Sequence Information:
- Length: 507
- Mass: 53588
- Checksum: 3DDBE1378B4176A6
- Sequence:
MGAPRSLLLA LAAGLAVARP PNIVLIFADD LGYGDLGCYG HPSSTTPNLD QLAAGGLRFT DFYVPVSLCT PSRAALLTGR LPVRMGMYPG VLVPSSRGGL PLEEVTVAEV LAARGYLTGM AGKWHLGVGP EGAFLPPHQG FHRFLGIPYS HDQGPCQNLT CFPPATPCDG GCDQGLVPIP LLANLSVEAQ PPWLPGLEAR YMAFAHDLMA DAQRQDRPFF LYYASHHTHY PQFSGQSFAE RSGRGPFGDS LMELDAAVGT LMTAIGDLGL LEETLVIFTA DNGPETMRMS RGGCSGLLRC GKGTTYEGGV REPALAFWPG HIAPGVTHEL ASSLDLLPTL AALAGAPLPN VTLDGFDLSP LLLGTGKSPR QSLFFYPSYP DEVRGVFAVR TGKYKAHFFT QGSAHSDTTA DPACHASSSL TAHEPPLLYD LSKDPGENYN LLGGVAGATP EVLQALKQLQ LLKAQLDAAV TFGPSQVARG EDPALQICCH PGCTPRPACC HCPDPHA
Genular Protein ID: 3430676058
Symbol: B4DVI5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 196
- Mass: 20260
- Checksum: 5999180718B27638
- Sequence:
MGAPRSLLLA LAAGLAVARP PNIVLIFADD LGYGDLGCYG HPSSTTPNLD QLAAGGLRFT DFYVPVSLCT PSRAALLTGR LPVRMGMYPG VLVPSSRGGL PLEEVTVAEV LAARGYLTGM AGKWHLGVGP EGAFLPPHQG FHRFLGIPYS HDQVGTTRAL SHPPTSQSPP ALDAPAAPPA SPALTAAARL RAPART
Genular Protein ID: 1229088727
Symbol: A0A0C4DFZ2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10591208
PubMed ID: 11237011
Title: Initial sequencing and analysis of the human genome.
PubMed ID: 11237011
DOI: 10.1038/35057062
PubMed ID: 15496913
Title: Finishing the euchromatic sequence of the human genome.
PubMed ID: 15496913
DOI: 10.1038/nature03001
PubMed ID: 18477386
Title: Finishing the finished human chromosome 22 sequence.
PubMed ID: 18477386
Sequence Information:
- Length: 509
- Mass: 53806
- Checksum: 3DDBE12E7427DBA6
- Sequence:
MSMGAPRSLL LALAAGLAVA RPPNIVLIFA DDLGYGDLGC YGHPSSTTPN LDQLAAGGLR FTDFYVPVSL CTPSRAALLT GRLPVRMGMY PGVLVPSSRG GLPLEEVTVA EVLAARGYLT GMAGKWHLGV GPEGAFLPPH QGFHRFLGIP YSHDQGPCQN LTCFPPATPC DGGCDQGLVP IPLLANLSVE AQPPWLPGLE ARYMAFAHDL MADAQRQDRP FFLYYASHHT HYPQFSGQSF AERSGRGPFG DSLMELDAAV GTLMTAIGDL GLLEETLVIF TADNGPETMR MSRGGCSGLL RCGKGTTYEG GVREPALAFW PGHIAPGVTH ELASSLDLLP TLAALAGAPL PNVTLDGFDL SPLLLGTGKS PRQSLFFYPS YPDEVRGVFA VRTGKYKAHF FTQGSAHSDT TADPACHASS SLTAHEPPLL YDLSKDPGEN YNLLGGVAGA TPEVLQALKQ LQLLKAQLDA AVTFGPSQVA RGEDPALQIC CHPGCTPRPA CCHCPDPHA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.