Cell Biology Antibodies 15

Anti-USH1G Antibody (CAB18536)

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SKU:
CAB18536
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology

Description

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Antibody Name:Anti-USH1G Antibody
Antibody SKU:CAB18536
Antibody Size:20uL, 50uL, 100uL
Application:WB IF
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant protein of human USH1G.
Application:WB IF
Recommended Dilution:WB 1:500 - 1:2000 IF 1:50 - 1:200
Reactivity:Human, Mouse
Positive Samples:
Immunogen:Recombinant protein of human USH1G.
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:124590
Uniprot:Q495M9
Cellular Location:
Calculated MW:
Observed MW:Refer to figures
Synonyms:ANKS4A, SANS, USH1G
Background:
UniProt Protein Function:USH1G: 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 USH1G are the cause of Usher syndrome type 1G (USH1G). 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.
UniProt Protein Details:

Protein type:Cytoskeletal

Chromosomal Location of Human Ortholog: 17q25.1

Cellular Component: actin cytoskeleton; cytosol; photoreceptor connecting cilium; photoreceptor inner segment; plasma membrane

Molecular Function:protein binding; protein homodimerization activity; spectrin binding

Biological Process: equilibrioception; inner ear morphogenesis; inner ear receptor stereocilium organization and biogenesis; photoreceptor cell maintenance; sensory perception of light stimulus; sensory perception of sound

Disease: Usher Syndrome, Type Ig

NCBI Summary:This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
UniProt Code:Q495M9
NCBI GenInfo Identifier:542133068
NCBI Gene ID:124590
NCBI Accession:NP_001269418.1
UniProt Secondary Accession:Q495M9,Q8N251,
UniProt Related Accession:Q495M9
Molecular Weight:51,489 Da
NCBI Full Name:Usher syndrome type-1G protein isoform 2
NCBI Synonym Full Names:USH1 protein network component sans
NCBI Official Symbol:USH1G  
NCBI Official Synonym Symbols:SANS; ANKS4A  
NCBI Protein Information:Usher syndrome type-1G protein
UniProt Protein Name:Usher syndrome type-1G protein
UniProt Synonym Protein Names:Scaffold protein containing ankyrin repeats and SAM domain
Protein Family:Usher syndrome type-1G protein
UniProt Gene Name:USH1G  
UniProt Entry Name:USH1G_HUMAN
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