1. Gene
  2. FUCA1 - alpha-L-fucosidase 1 Gene

FUCA1 - alpha-L-fucosidase 1 Gene

Homo sapiens

Also known as FUCA

Gene ID: 2517 | Gene type: protein coding

About FUCA1

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,845,077-23,868,290 (from NCBI)

This gene has 1 transcript (splice variant), 238 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 70.6), colon (RPKM 56.5) and 23 other tissues.

Summary

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]

FUCA1 Products(1)

mRNA Protein Name
NM_000147.5 NP_000138.2 tissue alpha-L-fucosidase precursor

FUCA1 Protein Structure

Alpha_L_fucos

Alpha_L_fucos: Alpha-L-fucosidase (19 - 371)

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  • 466 a.a.
Protein Preferred Names Protein Names

tissue alpha-L-fucosidase

I+/--L-fucosidase 1

Recombinant FUCA1 Proteins

Cat. No. Product Name Accession Purity
HY-P75782 FUCA1 Protein, Human (HEK293, His) P04066 (Q32-K466) ≥95%

Related Diseases

Diseases Alias
Fucosidosis

Alpha-L-Fucosidase Deficiency

Fucosidase Deficiency Disease

A-Fucosidase Deficiency

Alpha Fucosidase Deficiency

Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues

Alpha-Fucosidase Deficiency

Fucosidase Deficiency

FUCA1D

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy

Mucolipidosis Iii

Ml Iii Alpha/Beta

Mucolipidosis Iiia

Ml Iiia

Ml Iii

Ml 3 A

Ml3

Mucolipidosis Type 3a

Mucolipidosis Iii, Variant

Mucolipidosis Type Iii Alpha/Beta

Ml 3 Alpha/Beta

Mucolipidosis Type 3 Alpha/Beta

Mucolipidosis Type 3

Mucolipidosis Type Iii Complementation Group A

MLIIIA

Cariant Pseudo-Hurler Polydystrophy

Mucolipidosis, Type Iii Alpha/Beta

Mucolipidosis, Type Iii, Alpha/Beta

Angiokeratoma

Angiokeratoma Of Skin

Cutaneous Angiokeratoma

Skin Angiokeratoma

Fabry Disease

Alpha-Galactosidase A Deficiency

Anderson-Fabry Disease

Angiokeratoma Corporis Diffusum

Ceramide Trihexosidase Deficiency

Fabry Disease, Cardiac Variant

Fabry'S Disease

Hereditary Dystopic Lipidosis

Gla Deficiency

FD

Alpha Galactosidase Deficiency

Deficiency Of Melibiase

Angiokeratoma, Diffuse

Angiokeratoma Diffuse

Diffuse Angiokeratoma

Mucolipidosis Ii Alpha/Beta

I-Cell Disease

Mucolipidosis Type Ii

Mucolipidosis Ii

Icd

Inclusion Cell Disease

Inclusion-Cell Disease

I Cell Disease

Mucolipidosis 2

MLII

Ml Ii

Ml Ii Alpha/Beta

Gnpta

Leroy Disease

Ml 2

Ml Disorder Type 2

N-Acetylglucosamine 1phosphotransferase Deficiency

Mucolipidosis Type Ii Alpha/Beta

N-Acetylglucosamine 1-Phosphotransferase Deficiency

Deficiency Of N-Acetylglucosamine-1-Phosphotransferase

Mucolipidosis, Type Ii, Alpha/Beta

Ml2

Type Ii Mucolipidosis

Skin Hemangioma

Angioma Of The Skin

Angiomatous Naevus Of Skin

Hemangioma Of Skin

Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency Of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

MANSA

Mannosidosis, Alpha-, Types I And Ii

Alpha-D-Mannosidosis

Alpha-Mannosidase Deficiency

Α-Mannosidosis

Alpha Mannosidase B Deficiency

Mannosidosis, Alpha B Lysosomal

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Alpha-Mannosidosis, Adult Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis Types I And Ii

Mannosidase Deficiency Diseases

Hurler Syndrome

Mucopolysaccharidosis Ih

Mucopolysaccharidosis Type Ih

Mps1-H

MPS1H

Hurler Disease

Mpsih

Mucopolysaccharidosis Type 1h

Alpha-L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Hurler Disease Mps Type 1h

Hurler-Pfaundler Syndrome

L-Iduronidase Deficiency, Hurler Type

Mucopolysaccharidosis Type I Severe Form

Mucopolysaccharidosis 1h

Hurler'S Syndrome

Mps Ih

Mps-Ih

Pfaundler-Hurler Syndrome

Mucopolysaccharidosis I

Scheie Syndrome

Mucopolysaccharidosis Type Is

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis Type I

Mucopolysaccharidosis I

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Is

Mucopolysaccharidosis Type 1s

Mucopolysaccharidosis Type V

Hurler Syndrome

Idua Deficiency

Mps I

MPS1S

Mps1-S

Mucopolysaccharidosis Type V, Formerly

Mps V, Formerly

Mps5, Formerly

Lipochondrodystrophy

Mpsis

Mucopolysaccharidosis, Type I

Iduronidase Deficiency Disease

Mps I - Hurler Syndrome

Mucopolysaccharidosis, Mps-I

Mucopolysaccharidosis, Type 1

Attenuated Mps I

Mps 1

Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

Severe Mps I

Mps I H

Mps I H-S

Mps I S

Mps1

Mpsi

Mucopolysaccharidosis 1s

Mps Is

Mps-Is

Mps V

Mucopolysaccharidosis V

Pfaundler-Hurler Syndrome

L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Mps1 - [Mucopolysaccharidosis Type 1]

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract

Galactosialidosis

Goldberg Syndrome

Neuraminidase Deficiency With Beta-Galactosidase Deficiency

Ppca Deficiency

GSL

Lysosomal Protective Protein Deficiency

Cathepsin A Deficiency

Neuraminidase/Beta-Galactosidase Expression

Protective Protein/Cathepsin A Deficiency

Ngbe

Cathepsin A Deficiency Of

Lysosomal Protective Protein Deficiency Of

Deficiency Of Cathepsin A

Neuraminidase Beta-Galactosidase Deficiency

Protective Protein Cathepsin A Deficiency

Laryngotracheitis
Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency

Naga Deficiency

Alpha-Galactosidase B Deficiency

Alpha-Galnac Deficiency, Schindler Type

Alpha-Naga Deficiency

Angiokeratoma Corporis Diffusum-Glycopeptiduria

Galb Deficiency

Kanzaki Disease

Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum

Neuroaxonal Dystrophy, Schindler Type

Neuronal Axonal Dystrophy, Schindler Type

Schindler Disease, Type I

Schindler Disease, Type Ii

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

Glycoproteinosis

Sialidosis

Mucolipidosis Type I

Mucolipidoses

Cherry Red Spot Myoclonus Syndrome

Mucolipidosis I

Myoclonus Cherry Red Spot Syndrome

Type I Mucolipidosis

Lipomucopolysaccharidosis

Disorders Of Glycoprotein Metabolism

Glycoprotein Storage Disorder

Aspartylglucosaminuria

Aspartylglycosaminuria

Glycosylasparaginase Deficiency

Aspartylglucosaminidase Deficiency

Aga Deficiency

AGU

Aspartylglucosamidase Deficiency

Glycoasparaginase

Aspartylglucosamidase Deficiency

Hyperammonemia, Type Iii

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome

Arylsulfatase B Deficiency

Mucopolysaccharidosis Type Vi

Mps Vi

Mucopolysaccharidosis Vi

Mucopolysaccharidosis Type 6

MPS6

Arsb Deficiency

N-Acetylgalactosamine-4-Sulfatase Deficiency

Mucopolysaccharidosis 6

N-Acetylgalactosamine 4-Sulfatase Deficiency

Deficiency Of N-Acetylgalactosamine-4-Sulfatase

Maroteaux - Lamy Syndrome

Mps Vi - Maroteaux-Lamy Syndrome

Mps 6

Maroteaux Lamy Syndrome

Mucopoly-Saccharidosis Type Vi

Polydystrophic Dwarfism

Asb Deficiency

Mpsvi

Maroteaux-Lamy Disease

Arsb - [Arylsulfatase B] Deficiency

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta FUCA1 VGNC VGNC:72826
Canis familiaris FUCA1 VGNC VGNC:41005
Rattus norvegicus FUCA1 RGD RGD:2636
Felis catus FUCA1 VGNC VGNC:62387
Mus musculus FUCA1 MGD MGI:95593
Bos taurus FUCA1 VGNC VGNC:29140
Others FUCA1 NCBI