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Details of RareLSD ID 1002

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