protein

Harmonin, 1-533aa, Human, His-tag, Recombinant, E Coli

MBS203338

0.1 mg

310 USD

Recombinant Protein

Harmonin, 1-533aa, Human, His-tag, Recombinant, E Coli

Harmonin

Harmonin; uSH1C; AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; AIE 75; AIE75; Antigen NY CO 38/NY CO 37; Autoimmune enteropathy related antigen AIE 75; Autoimmune enteropathy related antigen AIE75; Deafness autosomal recessive 18; DFNB 18; NY CO 37; NY CO 38; PDZ 45; PDZ 73; PDZ 73 protein; PDZ 73/NY CO 38; PDZ45; PDZ73; PDZ73 protein; Renal carcinoma antigen NY REN 3; uSH 1C; ush1cpst; usher syndrome 1C; usher syndrome type 1C protein; usher syndrome 1C (autosomal recessive severe).

USH1C protein; Harmonin; harmonin; antigen NY-CO-38/NY-CO-37; autoimmune enteropathy-related antigen AIE-75; renal carcinoma antigen NY-REN-3; usher syndrome type-1C protein; Usher syndrome 1C (autosomal recessive, severe); Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein

USH1C; USH1C; PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38; AIE75

USH1C_HUMAN

533

MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMDR KVAREFRHKV DFLIENDAEK DYLYDVLRMY HQTMDVAVLV GDLKLVINEP SRLPLFDAIR PLIPLKHQVE YDQLTPRRSR KLKEVRLDRL HPEGLGLSVR GGLEFGCGLF ISHLIKGGQA DSVGLQVGDE IVRINGYSIS SCTHEEVINL IRTKKTVSIK VRHIGLIPVK SSPDEPLTWQ YVDQFVSESG GVRGSLGSPG NRENKEKKVF ISLVGSRGLG CSISSGPIQK PGIFISHVKP GSLSAEVGLE IGDQIVEVNG VDFSNLDHKE GRELFMTDRE RLAEARQREL QRQELLMQKR LAMESNKILQ EQQEMERQRR KEIAQKAAEE NERYRKEMEQ IVEEEEKFKK QWEEDWGSKE QLLLPKTITA EVHPVPLRKP KYDQGVEPEL EPADDLDGGT EEQGEQDFRK YEEGFDPYSM FTPEQIMGKD VRLLRIKKEG SLDLALEGGV DSPIGKVVVS AVYERGAAER HGGIVKGDEI MAINGKIVTD YTLAEADAAL QKAWNQGGDW IDLVVAVCPP KEYDDELTFF

> 95% by SDS - PAGE

Liquid. In 20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol.

1 mg/ml (determined by Bradford assay)

Can be stored at 4 degree C short term (1-2 weeks). For long term storage, aliquot and store at -20 degree C or -70 degree C. Avoid repeated freezing and thawing cycles.

SDS-PAGE

Antigen Species: Human. Tag: His-tag

Expression System: E Coli

Cell Cycle

Harmonin, product encoded by uSH1c gene, is a scaffold protein that functions in the assembly of usher protein complexes. usher syndrome type I caused by mutations in uSH1C is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Hormonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Recombinant human Harmonin protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography.

Siemens J., et al. (2002). Proc Natl Acad Sci u S A. 99(23):14946-51. Ouyang XM., et al. (2002). Hum Genet. 111(1):26-30.

16359185

AAH16057

64.6 kDa (570aa)

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]

USH1C: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C); also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 5 isoforms of the human protein are produced by alternative splicing. Protein type: Cytoskeletal. Chromosomal Location of Human Ortholog: 11p14.3. Cellular Component: stereocilium; photoreceptor outer segment; photoreceptor inner segment; cytoskeleton; apical part of cell; cytoplasm; plasma membrane; synapse; cytosol; brush border. Molecular Function: actin filament binding; protein binding; myosin tail binding; spectrin binding. Biological Process: inner ear morphogenesis; parallel actin filament bundle formation; sensory perception of sound; sensory perception of light stimulus; photoreceptor cell maintenance; auditory receptor cell differentiation; G2/M transition of mitotic cell cycle; equilibrioception. Disease: Usher Syndrome, Type Ic; Usher Syndrome, Type I; Deafness, Autosomal Recessive 18a

0.1 mg

310 USD

0.5 mg

720