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WFS1 Wolfram syndrome 1 (wolframin) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001145853 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. ORF Sequence $775.17
Peptide Services
Antibody Services
Protein Services
NM_006005 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA. ORF Sequence $775.17
Peptide Services
Antibody Services
Protein Services


Gene Symbol WFS1
Entrez Gene ID 7466
Full Name Wolfram syndrome 1 (wolframin)
Synonyms FLJ51211, WFRS, WFS
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16

Summary This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009].
Disorder

MIM: 606201

Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38,

mRNA Protein Product Sequence Price Select
NM_001145853, 224994204 NP_001139325, 224994205 wolframin Full Length $1272.60
ORF Sequence $775.17
NM_006005, 224994202 NP_005996, 224994203 wolframin Full Length $1274.00
ORF Sequence $775.17
KEGG
hsa04141Protein processing in endoplasmic reticulum
Reactome
REACT_15380Diabetes pathways
REACT_18356Unfolded Protein Response
REACT_18368Activation of Chaperones by IRE1alpha
REACT_18273Activation of Chaperone Genes by XBP1(S)
REACT_116125Disease
Homo sapiens (human)WFS1NP_001139325.1
Pan troglodytes (chimpanzee)WFS1XP_003310288.1
Macaca mulatta (Rhesus monkey)WFS1XP_001092811.1
Canis lupus familiaris (dog)WFS1XP_539234.3
Bos taurus (cattle)WFS1XP_002688446.1
Mus musculus (house mouse)Wfs1NP_035846.1
Rattus norvegicus (Norway rat)Wfs1NP_114011.1
Gallus gallus (chicken)WFS1XP_420803.2
Danio rerio (zebrafish)wfs1bXP_684510.2
GeneCards WFS1
UniProt O76024
MIM 606201
Ensembl ENSG00000109501
HGNC 12762
HPRD 05864

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
wolframin
Names
wolframin

Interactant

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