Details for: FUCA1

Gene ID: 2517

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: FUCA1

Ensembl ID: ENSG00000179163

Description: alpha-L-fucosidase 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • ciliated epithelial cell CL0000067
    CSI 25.15
    rCSI 22.12%
    PRS 62.42
  • placental villous trophoblast CL2000060
    CSI 16.84
    rCSI 26.03%
    PRS 73.06
  • Hofbauer cell CL3000001
    CSI 10.9
    rCSI 20.58%
    PRS 83.16
  • myeloid leukocyte CL0000766
    CSI 7.2
    rCSI 6.64%
    PRS 75.7
  • goblet cell CL0000160
    CSI 7.13
    rCSI 6.74%
    PRS 73.15
  • duct epithelial cell CL0000068
    CSI 6.17
    rCSI 9.03%
    PRS 78.84
  • BEST4+ enteroycte CL4030026
    CSI 6.11
    rCSI 7.6%
    PRS 75.31
  • colon epithelial cell CL0011108
    CSI 5.8
    rCSI 6.07%
    PRS 71.09
  • extravillous trophoblast CL0008036
    CSI 5.62
    rCSI 6.96%
    PRS 71.46
  • colon macrophage CL0009038
    CSI 5.56
    rCSI 25.66%
    PRS 88.03
  • pancreatic acinar cell CL0002064
    CSI 4.72
    rCSI 6.28%
    PRS 80.05
  • intestine goblet cell CL0019031
    CSI 4.62
    rCSI 4.1%
    PRS 71.83
  • epithelial cell of lung CL0000082
    CSI 4.56
    rCSI 3.78%
    PRS 74.34
  • enterocyte CL0000584
    CSI 4.21
    rCSI 6.78%
    PRS 74.46
  • renal alpha-intercalated cell CL0005011
    CSI 3.84
    rCSI 5.13%
    PRS 81.46
  • fibroblast of lung CL0002553
    CSI 3.84
    rCSI 3.57%
    PRS 74.72
  • transit amplifying cell of colon CL0009011
    CSI 3.77
    rCSI 4.43%
    PRS 76.01
  • acinar cell CL0000622
    CSI 3.76
    rCSI 5.52%
    PRS 84.27
  • pancreatic A cell CL0000171
    CSI 3.73
    rCSI 3.91%
    PRS 77.26
  • ependymal cell CL0000065
    CSI 3.68
    rCSI 7.46%
    PRS 52.11
  • multi-ciliated epithelial cell CL0005012
    CSI 3.39
    rCSI 3.39%
    PRS 67.62
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 3.29
    rCSI 4.66%
    PRS 70.31
  • kidney connecting tubule epithelial cell CL1000768
    CSI 3.28
    rCSI 8.31%
    PRS 63.89
  • interstitial cell of Cajal CL0002088
    CSI 3.18
    rCSI 4.05%
    PRS 79.46
  • ciliated cell CL0000064
    CSI 3.13
    rCSI 5.07%
    PRS 69.51
  • secretory cell CL0000151
    CSI 2.79
    rCSI 2.91%
    PRS 73.68
  • pancreatic D cell CL0000173
    CSI 2.76
    rCSI 2.72%
    PRS 76.62
  • nasal mucosa goblet cell CL0002480
    CSI 2.7
    rCSI 3.13%
    PRS 79.21
  • elicited macrophage CL0000861
    CSI 2.68
    rCSI 2.46%
    PRS 82.65
  • transit amplifying cell CL0009010
    CSI 2.64
    rCSI 4.03%
    PRS 84.21
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 2.61
    rCSI 6.74%
    PRS 69.01
  • alternatively activated macrophage CL0000890
    CSI 2.58
    rCSI 3.24%
    PRS 84.36
  • inflammatory macrophage CL0000863
    CSI 2.57
    rCSI 4.4%
    PRS 91.42
  • Kupffer cell CL0000091
    CSI 2.53
    rCSI 5.79%
    PRS 74.68
  • group 3 innate lymphoid cell CL0001071
    CSI 2.5
    rCSI 1.88%
    PRS 80.01
  • hepatocyte CL0000182
    CSI 2.49
    rCSI 4.46%
    PRS 73.28
  • mucus secreting cell CL0000319
    CSI 2.49
    rCSI 3.95%
    PRS 83.36
  • stem cell CL0000034
    CSI 2.36
    rCSI 2.28%
    PRS 66.25
  • pulmonary ionocyte CL0017000
    CSI 2.34
    rCSI 2.84%
    PRS 80.82
  • fallopian tube secretory epithelial cell CL4030006
    CSI 2.26
    rCSI 2.18%
    PRS 73.36
  • M cell of gut CL0000682
    CSI 2.22
    rCSI 2.36%
    PRS 80.68
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 2.21
    rCSI 5.75%
    PRS 74.41
  • intestinal epithelial cell CL0002563
    CSI 2.15
    rCSI 2.25%
    PRS 71.75
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.14
    rCSI 1.66%
    PRS 77.29
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 2.11
    rCSI 1.62%
    PRS 76.34
  • colonocyte CL1000347
    CSI 2.05
    rCSI 2.94%
    PRS 75.79
  • enterocyte of epithelium of large intestine CL0002071
    CSI 2.02
    rCSI 10.59%
    PRS 81.18
  • mononuclear phagocyte CL0000113
    CSI 1.99
    rCSI 4.39%
    PRS 78.12
  • conjunctival epithelial cell CL1000432
    CSI 1.98
    rCSI 3.03%
    PRS 74.33
  • mucous neck cell CL0000651
    CSI 1.96
    rCSI 2.83%
    PRS 82.33
  • club cell CL0000158
    CSI 1.96
    rCSI 2.87%
    PRS 68.73
  • squamous epithelial cell CL0000076
    CSI 1.95
    rCSI 4.63%
    PRS 75.51
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 1.95
    rCSI 2.56%
    PRS 85.81
  • tracheobronchial serous cell CL0019001
    CSI 1.91
    rCSI 8.25%
    PRS 82.99
  • hematopoietic stem cell CL0000037
    CSI 1.87
    rCSI 1.25%
    PRS 76.89
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.82
    rCSI 2.26%
    PRS 53.36
  • kidney epithelial cell CL0002518
    CSI 1.81
    rCSI 3.45%
    PRS 89.2
  • ionocyte CL0005006
    CSI 1.79
    rCSI 1.92%
    PRS 74.58
  • type B pancreatic cell CL0000169
    CSI 1.79
    rCSI 3.96%
    PRS 72.87
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.74
    rCSI 2.08%
    PRS 55.29
  • IgA plasma cell CL0000987
    CSI 1.73
    rCSI 1.77%
    PRS 84.01
  • type L enteroendocrine cell CL0002279
    CSI 1.68
    rCSI 3.16%
    PRS 83.86
  • intermediate monocyte CL0002393
    CSI 1.64
    rCSI 2.47%
    PRS 79.26
  • fraction A pre-pro B cell CL0002045
    CSI 1.61
    rCSI 1.85%
    PRS 87.12
  • chondrocyte CL0000138
    CSI 1.58
    rCSI 2.51%
    PRS 66.57
  • lung ciliated cell CL1000271
    CSI 1.56
    rCSI 1.8%
    PRS 65.49
  • alveolar macrophage CL0000583
    CSI 1.53
    rCSI 2.53%
    PRS 78.84
  • lung macrophage CL1001603
    CSI 1.53
    rCSI 3.42%
    PRS 81.77
  • respiratory basal cell CL0002633
    CSI 1.53
    rCSI 1.58%
    PRS 78.91
  • intestinal tuft cell CL0019032
    CSI 1.51
    rCSI 2.31%
    PRS 78.17
  • dendritic cell, human CL0001056
    CSI 1.5
    rCSI 2.3%
    PRS 83.14
  • tuft cell of colon CL0009041
    CSI 1.41
    rCSI 3.28%
    PRS 81.94
  • foveolar cell of stomach CL0002179
    CSI 1.34
    rCSI 2.85%
    PRS 81.66
  • renal principal cell CL0005009
    CSI 1.31
    rCSI 3.39%
    PRS 75.56
  • peripheral nervous system neuron CL2000032
    CSI 1.29
    rCSI 1.75%
    PRS 65.32
  • pancreatic ductal cell CL0002079
    CSI 1.27
    rCSI 2.47%
    PRS 77.11
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.26
    rCSI 2.22%
    PRS 54.47
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.22
    rCSI 2.04%
    PRS 55.35
  • syncytiotrophoblast cell CL0000525
    CSI 1.07
    rCSI 3.08%
    PRS 82.78
  • tracheal goblet cell CL1000329
    CSI 0.85
    rCSI 1.87%
    PRS 82.89
  • colon goblet cell CL0009039
    CSI 0.85
    rCSI 2.03%
    PRS 80.88
  • mesenchymal cell CL0008019
    CSI 0.77
    rCSI 1.95%
    PRS 67.55
  • podocyte CL0000653
    CSI 0.69
    rCSI 3.07%
    PRS 74.32
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 0.69
    rCSI 1.57%
    PRS 68.56
  • intestinal crypt stem cell of colon CL0009043
    CSI 0.59
    rCSI 4.45%
    PRS 85.98
  • paneth cell of colon CL0009009
    CSI 0.49
    rCSI 4.85%
    PRS 85.56
  • acinar cell of salivary gland CL0002623
    CSI 0.46
    rCSI 10.83%
    PRS 88.13
  • peptic cell CL0000155
    CSI 0.23
    rCSI 2.3%
    PRS 86.61

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [FUCA1](/details-gene/2517) encodes alpha-L-fucosidase 1, a lysosomal hydrolase responsible for the removal of terminal L-fucose residues from oligosaccharide chains of glycoproteins and glycolipids. This function is a critical step in the catabolism of various fucosylated glycoconjugates. **Overall**, expression data reveals that [FUCA1](/details-gene/2517) is a highly significant gene in secretory epithelial cells, such as [ciliated epithelial cell](/details-cell/CL0000067), and in placental tissues, including [placental villous trophoblast](/details-cell/CL2000060) and [Hofbauer cell](/details-cell/CL3000001). Genetically, loss-of-function mutations in [FUCA1](/details-gene/2517) lead to fucosidosis ([153245](https://omim.org/entry/230000)), a rare autosomal recessive lysosomal storage disease characterized by the accumulation of fucose-containing compounds in tissues ([Link](https://doi.org/10.1093/hmg/2.4.423)). ## Cellular Roles and Expression Landscape The expression profile of [FUCA1](/details-gene/2517) highlights its importance in cells with high metabolic and secretory activity, particularly those involved in mucosal barriers and placental function. **Overall**, the gene shows its highest significance in [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 25.15), suggesting a key role in the airway or other ciliated tissues. This is complemented by high significance in other mucosal and glandular epithelial cells, including [goblet cell](/details-cell/CL0000160), [duct epithelial cell](/details-cell/CL0000068), and various intestinal epithelial cells like [BEST4+ enteroycte](/details-cell/CL4030026) and [colon epithelial cell](/details-cell/CL0011108). This pattern suggests [FUCA1](/details-gene/2517) is integral to the maintenance and function of mucosal surfaces, possibly through the turnover of fucosylated glycoproteins in mucus. A second major site of [FUCA1](/details-gene/2517) activity is the placenta, with high significance in [placental villous trophoblast](/details-cell/CL2000060), [Hofbauer cell](/details-cell/CL3000001) (placental macrophages), and [extravillous trophoblast](/details-cell/CL0008036). This indicates a potential role in placental development, maternal-fetal immune interactions, or nutrient transport. Finally, [FUCA1](/details-gene/2517) is also significantly expressed in [myeloid leukocyte](/details-cell/CL0000766) and [colon macrophage](/details-cell/CL0009038), which, together with its known presence in neutrophil granules, points to a role in innate immunity. ## Pathways and Molecular Function The molecular function of [FUCA1](/details-gene/2517) is centered on its [alpha-l-fucosidase activity](/details-cell/GO:0004560), enabling it to participate in a variety of catabolic and protein modification pathways. Functionally, [FUCA1](/details-gene/2517) is a key enzyme in the [fucose metabolic process](/details-cell/GO:0006004) and the degradation of complex molecules such as glycolipids ([GO:0019377](/details-cell/GO:0019377)) and glycosaminoglycans ([GO:0006027](/details-cell/GO:0006027)). Its localization within the [lysosome](/details-cell/GO:0005764) and specifically the [lysosomal lumen](/details-cell/GO:0043202) is consistent with its role as a terminal degradation enzyme for cellular glycoproteins. The involvement of [FUCA1](/details-gene/2517) in the [immune system](/details-cell/R-HSA-168256) is highlighted by Reactome pathway analysis. Its presence in the [azurophil granule lumen](/details-cell/GO:0035578) of neutrophils is directly linked to the [neutrophil degranulation](/details-cell/R-HSA-6798695) pathway, suggesting a role in modulating immune responses during inflammation. This aligns with its expression in myeloid cells and its annotation under the [innate immune system](/details-cell/R-HSA-168249) pathway. Furthermore, its role in post-translational modification is underscored by its participation in [asparagine n-linked glycosylation](/details-cell/R-HSA-446203), a fundamental process for a vast number of secreted and membrane-bound proteins. ## Research Directions The specific expression patterns and known functions of [FUCA1](/details-gene/2517) provide a foundation for several testable hypotheses regarding its role in health and disease. **Proposed Hypotheses:** 1. Given its exceptionally high expression in [ciliated epithelial cell](/details-cell/CL0000067) and [goblet cell](/details-cell/CL0000160), [FUCA1](/details-gene/2517) likely regulates the biophysical properties of mucus and mucociliary clearance by controlling the fucosylation state of secreted mucins. Altered [FUCA1](/details-gene/2517) activity could therefore contribute to the pathology of respiratory diseases characterized by mucus hypersecretion or dysfunction. 2. The high significance of [FUCA1](/details-gene/2517) in multiple placental cell types, including [Hofbauer cell](/details-cell/CL3000001) and trophoblasts, suggests its activity is essential for establishing maternal-fetal tolerance. [FUCA1](/details-gene/2517)-mediated deglycosylation may alter surface proteins on placental cells to prevent rejection by the maternal immune system. 3. Based on its role in [neutrophil degranulation](/details-cell/R-HSA-6798695), [FUCA1](/details-gene/2517) may modulate the inflammatory response by processing fucosylated ligands on pathogens or host cells, thereby influencing downstream signaling pathways related to pathogen recognition and clearance. **Experimental Approach:** To test the hypothesis that [FUCA1](/details-gene/2517) is critical for mucociliary function (Hypothesis 1), an *in vitro* model using primary human bronchial epithelial cells could be employed. Cells would be cultured at an air-liquid interface to induce differentiation into a mucociliary epithelium. CRISPR-Cas9-mediated knockout of [FUCA1](/details-gene/2517) would then be performed. The functional consequences could be assessed by measuring changes in mucus viscosity using particle-tracking microrheology, quantifying ciliary beat frequency via high-speed video microscopy, and evaluating bacterial clearance rates using fluorescently labeled bacteria. Mass spectrometry-based glycoproteomics would be used to identify specific changes in the fucosylation patterns of secreted mucins (e.g., MUC5AC, MUC5B). **Therapeutic Potential:** The primary clinical relevance of [FUCA1](/details-gene/2517) is its deficiency in the lysosomal storage disorder fucosidosis. Therefore, therapeutic strategies are aimed at restoring, not inhibiting, its function. Enzyme replacement therapy (ERT), where a recombinant form of the enzyme is administered intravenously, represents a direct and viable approach. Alternatively, gene therapy aimed at delivering a functional copy of the [FUCA1](/details-gene/2517) gene to affected tissues, particularly hematopoietic stem cells or central nervous system cells, could offer a more permanent solution. The widespread expression of the gene and the systemic nature of the disease present significant challenges for delivery, but these approaches represent the most promising avenues for treating this rare genetic disorder.

Genular Protein ID: 3191407321

Symbol: FUCO_HUMAN

Name: Alpha-L-fucosidase I

UniProtKB Accession Codes:

P04066 B2RBG3 Q14334 Q14335 Q3LID0 Q8NAC2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CPTAC 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 15 EMDB 2 Ensembl 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 6 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8504303

Title: Fucosidosis: four new mutations and a new polymorphism.

PubMed ID: 8504303

DOI: 10.1093/hmg/2.4.423

PubMed ID: 12880961

Title: Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma.

PubMed ID: 12880961

DOI: 10.1016/s0304-3835(03)00085-5

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 2803312

Title: Human alpha-L-fucosidase: complete coding sequence from cDNA clones.

PubMed ID: 2803312

DOI: 10.1016/0006-291x(89)91739-7

PubMed ID: 2174090

Title: Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase.

PubMed ID: 2174090

DOI: 10.1007/bf01799583

PubMed ID: 2983333

Title: Molecular cloning of a cDNA for human alpha-L-fucosidase.

PubMed ID: 2983333

DOI: 10.1073/pnas.82.4.1262

PubMed ID: 6096099

Title: Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library.

PubMed ID: 6096099

DOI: 10.1089/dna.1.1984.3.437

PubMed ID: 2894306

Title: Molecular biology of the alpha-6L-fucosidase gene and fucosidosis.

PubMed ID: 2894306

DOI: 10.1159/000469189

PubMed ID: 9741689

Title: Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.

PubMed ID: 9741689

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8399358

Title: Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.

PubMed ID: 8399358

DOI: 10.1016/0925-4439(93)90065-9

PubMed ID: 7874128

Title: A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

PubMed ID: 7874128

PubMed ID: 7815431

Title: Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.

PubMed ID: 7815431

DOI: 10.1136/jmg.31.8.659-a

PubMed ID: 9762612

Title: A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.

PubMed ID: 9762612

DOI: 10.1023/a:1005405222252

PubMed ID: 10094192

Title: Spectrum of mutations in fucosidosis.

PubMed ID: 10094192

DOI: 10.1038/sj.ejhg.5200272

PubMed ID: 12408193

Title: A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

PubMed ID: 12408193

DOI: 10.1023/a:1020116220624

Sequence Information:

  • Length: 466
  • Mass: 53689
  • Checksum: D9A38ECC7BADCBBB
  • Sequence:
    • MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP AWFDEAKFGV 
FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG FSYADFGPQF TARFFHPEEW 
ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS WNWNSKDVGP HRDLVGELGT ALRKRNIRYG 
LYHSLLEWFH PLYLLDKKNG FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW 
NSTNFLSWLY NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID 
KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI FQERLLAVGK 
WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL HWPENGVLNL ESPITTSTTK 
ITMLGIQGDL KWSTDPDKGL FISLPQLPPS AVPAEFAWTI KLTGVK