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USH1C Usher syndrome 1C (autosomal recessive, severe) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005709 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_153676 Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant b3, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Gene Symbol USH1C
Entrez Gene ID 10083
Full Name Usher syndrome 1C (autosomal recessive, severe)
Synonyms AIE-75, DFNB18, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, ush1cpst
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p14.3

Summary This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].
Disorder

MIM: 605242

Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive

mRNA Protein Product Sequence Price Select
NM_005709, 225690577 NP_005700, 71480164 harmonin isoform a ORF Sequence $550.00
NM_153676, 225703075 NP_710142, 41281808 harmonin isoform b3 ORF Sequence $750.00
Homo sapiens (human)USH1CNP_710142.1
Macaca mulatta (Rhesus monkey)LOC696911XP_001085522.2
Canis lupus familiaris (dog)USH1CXP_865200.2
Bos taurus (cattle)USH1CNP_001030459.1
Mus musculus (house mouse)Ush1cNP_710143.2
Gallus gallus (chicken)USH1CXP_421006.3
Danio rerio (zebrafish)ush1cNP_001035018.1
GeneCards USH1C
PDB 1X5N, 3K1R, 2KBS, 2KBR, 2LSR, 2KBQ
UniProt Q9Y6N9
MIM 605242
Ensembl ENSG00000006611
HGNC 12597
HPRD 09241

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

General protein information

Preferred Names
harmonin
Names
harmonin
antigen NY-CO-38/NY-CO-37
usher syndrome type-1C protein
renal carcinoma antigen NY-REN-3
autoimmune enteropathy-related antigen AIE-75

Interactant



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