Official symbol | GNS |
Gene id | 2799 |
Organism | Homo sapiens |
Official full symbol | glucosamine (N-acetyl)-6-sulfatase |
Gene type | protein-coding |
Also known as | G6S |
Summary | The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. |
Genomic regions | Chromosome 12 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
GNS-201 | ENST00000258145.8 | 5081 | 552aa | Protein coding | CCDS8970 | P15586-1 | NM_002076.4 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
GNS-202 | ENST00000418919.6 | 4877 | 496aa | Protein coding | - | H7C3P4 | - | TSL:1, GENCODE basic, |
GNS-208 | ENST00000543646.5 | 2164 | 584aa | Protein coding | - | F6S8M0 | - | TSL:2, GENCODE basic, APPRIS ALT2, |
GNS-207 | ENST00000542058.5 | 2020 | 532aa | Protein coding | - | P15586-2 | - | TSL:2, GENCODE basic, |
GNS-204 | ENST00000540196.5 | 907 | 303aa | Protein coding | - | H0YFA9 | - | CDS 5' and 3' incomplete, TSL:5, |
GNS-209 | ENST00000545273.1 | 906 | 247aa | Protein coding | - | F5H4C6 | - | CDS 3' incomplete, TSL:5, |
GNS-206 | ENST00000541781.5 | 1846 | No protein | Retained intron | - | - | - | TSL:5, |
GNS-203 | ENST00000537823.1 | 562 | No protein | Retained intron | - | - | - | TSL:3, |
GNS-205 | ENST00000540883.1 | 544 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | GNS |
This KO Strategy | loading |
Red Cotton™ Notes | Gene GNS had been KO in hela cell line. |
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