NAGLU
entrez
4669
canonical
uniprot
P54802
canonical
ensembl
ENSG00000108784
resolver
ensp
ENSP00000225927
resolver
ensp
ENSP00000574980
resolver
enst
ENST00000225927
resolver
genesymbol
NAGLU
resolver
genesymbol_syn
UFHSD1
resolver
hgnc
HGNC:7632
resolver
uniprot
A0A140VJE4
resolver
uniprot_entry
A0A140VJE4_HUMAN
resolver
uniprot_entry
ANAG_HUMAN
resolver
amino_acid_sequence
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269|PubMed:10094189, ECO:0000269|PubMed:11068184, ECO:0000269|PubMed:11153910, ECO:0000269|PubMed:11286389, ECO:0000269|PubMed:11793481, ECO:0000269|PubMed:11836372, ECO:0000269|PubMed:12202988, ECO:0000269|PubMed:14984474, ECO:0000269|PubMed:15933803, ECO:0000269|PubMed:16151907, ECO:0000269|PubMed:28101780, ECO:0000269|PubMed:8650226, ECO:0000269|PubMed:9443875, ECO:0000269|PubMed:9443878, ECO:0000269|PubMed:9832037, ECO:0000269|PubMed:9950362}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2V (CMT2V) [MIM:616491]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia. {ECO:0000269|PubMed:25818867}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.50
uniprot
proteins
function
FUNCTION: Involved in the degradation of heparan sulfate.
uniprot
proteins
mass_dalton
82266
uniprot
proteins
protein_family
Glycosyl hydrolase 89 family
uniprot
proteins
pubmed
10094189
uniprot
proteins
pubmed
11068184
uniprot
proteins
pubmed
11153910
uniprot
proteins
pubmed
11286389
uniprot
proteins
pubmed
11793481
uniprot
proteins
pubmed
11836372
uniprot
proteins
pubmed
12202988
uniprot
proteins
pubmed
14984474
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15933803
uniprot
proteins
pubmed
16151907
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
25818867
uniprot
proteins
pubmed
28101780
uniprot
proteins
pubmed
8650226
uniprot
proteins
pubmed
8703123
uniprot
proteins
pubmed
8776591
uniprot
proteins
pubmed
9443875
uniprot
proteins
pubmed
9443878
uniprot
proteins
pubmed
9832037
uniprot
proteins
pubmed
9950362
uniprot
proteins
sequence_length
743
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome.
uniprot
proteins