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Gene : FUCA1 Homo sapiens

Name  ? alpha-L-fucosidase 1 Cytological Location  1p36.11
Brief Description  alpha-L-fucosidase 1
description  The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
  • synonyms:
  • tissue fucosidase,
  • FUCA,
  • α-L-fucosidase 1,
  • HGNC:4006,
  • BC017338,
  • fucosidase, alpha-L- 1, tissue,
  • uc001bie.5,
  • OTTHUMG00000002965,
  • a-L-fucosidase 1,
  • FUCA1,
  • NM_000147
  • identifiers:
  • 2517,
  • ENSG00000179163,
  • FUCA1

Genome feature

Region: gene ? Length: 23293  
Location: 1:23845077-23868369 reverse strand Cyto location: 1p36.11


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results