FUCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | FUCA1 , FUCA, fucosidase, alpha-L- 1, tissue, alpha-L-fucosidase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 612280 MGI: 95593 HomoloGene: 20078 GeneCards: FUCA1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene. [5] [6]
Alpha-fucosidase is an enzyme that breaks out fucose. [7]
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM] [6]
Lecithin–cholesterol acyltransferase is an enzyme, in many animals including humans, that converts free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle, eventually making the newly synthesized HDL spherical and forcing the reaction to become unidirectional since the particles are removed from the surface. The enzyme is bound to high-density lipoproteins (HDLs) (alpha-LCAT) and LDLs (beta-LCAT) in the blood plasma. LCAT deficiency can cause impaired vision due to cholesterol corneal opacities, anemia, and kidney damage. It belongs to the family of phospholipid:diacylglycerol acyltransferases.
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.
The alpha-1D adrenergic receptor, also known as ADRA1D, is an alpha-1 adrenergic receptor, and also denotes the human gene encoding it.
Probable G-protein coupled receptor 133 is a protein that in humans is encoded by the GPR133 gene.
6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.
Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DLST gene.
Peroxisome proliferator-activated receptor gamma coactivator 1-beta is a protein that in humans is encoded by the PPARGC1B gene.
Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene.
Sterile alpha motif and leucine zipper containing kinase AZK, also known as ZAK, is a human gene.
Alpha-(1,3)-fucosyltransferase is an enzyme that in humans is encoded by the FUT6 gene.
Phosphorylase b kinase regulatory subunit beta is an enzyme that in humans is encoded by the PHKB gene.
Pregnancy-specific beta-1-glycoprotein 4 is a protein that in humans is encoded by the PSG4 gene.
Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.
Rab11 family-interacting protein 4 is a protein that in humans is encoded by the RAB11FIP4 gene.
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene. It is the muscle isoform of Phosphorylase kinase (PhK).
Plasma alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA2 gene.
Pyruvate kinase PKLR is an enzyme that in humans is encoded by the PKLR gene.
Aldehyde oxidase 1 is an enzyme that in humans is encoded by the AOX1 gene.