| RareLSD_Id | 1002 |
| ENZYME | Alpha L-Fucosidase, tissue |
| GENE | FUCA1 |
| E.C.NUMBER | 3.2.1.51 |
| FAMILY | GH29 |
| CYTOGENETICS | 1-p36.11 |
| DISEASE | Fucosidosis |
| SNP | rs1021897274,rs114490852,rs118204450,rs13551,rs139832548,rs80358198,rs118204450,rs80358195,rs80358196,rs80358197,rs13551,rs80358199,rs587779398,rs587779399,rs2070954,rs2070955,rs2070956,rs794727774rs,rs143691289,rs886046321,rs886046322,rs886046323,rs886046323,rs114490852,rs114490852,rs199675692,rs2228424,rs61996282,rs2070955,rs139832548,FUCA1-IVS5DS, G-A,+1,FUCA1-1-BP DEL, EX2,FUCA1-1-BP DEL, EX5,FUCA1-1-BP DEL |
| DEPOSIT | Fucoglycoconjugates H antigen (a member of the ABO blood group antigens) |
| REF | 9762612, 10094192, 8399358, 2903668 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 3.94 |
| Catalytic Nucleophile | Asp225 |
Catalytic Acid/Base
| Glu266 |
| Substrate | Fucalpha(12)Gal + H2O |
| Product | alpha-L-fucose + D-galactose |
| Structure(PDB/Phyre2_ID) | 4PSP |
| kM | 2.9 |
| DRUG | NA |
| SEQ LENGTH | 466 |
| AA SEQ | MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGVFIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEWADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYGLYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPDLIWSDGEWECPDTYWNSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSIDKFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGKWLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTKITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK |
| MODIFICATION | N-linked Glycosylation:Asn241,Asn268,Asn382 |
| INHIBITOR | 4chloromercuribenzoate,Cu2+,D-glucose,deoxycholate,formaldehyde(1R,2R,3R,4R,5R)4-amino5-methylcyclopentane1,2,3triol |
| ACTIVE SITE RESIDUE | Cys296 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | PROCESSED |
| MISCELLANEOUS | NA |
| PARALOGS | FUCA2 |
| MECHANISM | Koshland double-displacement mechanism |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Ear,Nose,Eye,Boness,Nervous System,Lungs,Nervous System,HEart |
| ENZYME LOCATION | NA |
| UniProt ID | P04066 |
