Gns Gene Search Result

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3 records found for search term Gns

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1314172	GNS	glucosamine (N-acetyl)-6-sulfatase	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 (Sa ... (more) nfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]	12	64713449	64759406	Human	276	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1314711	ANKRD26	ankyrin repeat domain 26	This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding ... (more) different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	10	26947582	27100494	Human	167	old_gene_name	gene, protein-coding, REVIEWED [RefSeq]
1316352	ELOVL3	ELOVL fatty acid elongase 3	This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]	10	102224767	102229589	Human	166	description	gene, protein-coding, REVIEWED [RefSeq]