QuickView for NAGLU (gene)

Gene Symbol:

NAGLU Homo sapiens

Full name:

N-acetyl-alpha-glucosaminidase

Synonyms:

CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD, alpha-N-acetylglucosaminidase, N-acetylglucosaminidase, alpha, testicular tissue protein Li 18

Genomic Location:

Chr 17: 37941477-37949993

Description:

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excreti...

View Full Description

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GCANCTGNY_MYOD_Q6 ,  AHRARNT_01 ,  AP4_Q6_01 ,  AAAYRNCTG_UNKNOWN ,  CAGCTG_AP4_Q5 ,  GCTNWTTGK_UNKNOWN

Cytogenetic Map:

17q21.2

search → result