Anti-SHOX Antibody (CAB19517)

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SKU:
CAB19517
Product Type:
Antibody
Antibody Type:
Polyclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
SHOX
Synonyms:
GCFX
Synonyms:
PHOG
Synonyms:
SHOXY
Synonyms:
SS

Description

Product Name:SHOX Rabbit pAb
Product Code:CAB19517
Size:50uL
Synonyms:SHOX, GCFX, PHOG, SHOXY, SS
Applications:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:A synthetic Peptide of human SHOX
Applications:WB
Recommended Dilutions:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:293T, BxPC-3, Mouse brain, Rat heart
Immunogen:A synthetic Peptide of human SHOX
Purification Method:Affinity purification
Storage:Store at 4°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:6473
Uniprot:O15266
Cellular Location:Nucleus
Calculated MW:25kDa/32kDa
Observed MW:32kDa
UniProt Protein Function:SHOX: Controls fundamental aspects of growth and development. Defects in SHOX are the cause of Leri-Weill dyschondrosteosis (LWD). LWD is a dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. Defects in SHOX are a cause of Langer mesomelic dysplasia (LMD). LMD is an autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. Defects in SHOX are a cause of idiopathic short stature (ISS). Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations of national height standards in the absence of specific causative disorders. Belongs to the paired homeobox family. Bicoid subfamily. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: Xp22.33;Yp11.3

Molecular Function:protein binding; transcription factor activity

Biological Process: skeletal development; transcription from RNA polymerase II promoter

Disease: Langer Mesomelic Dysplasia; Leri-weill Dyschondrosteosis; Short Stature, Idiopathic, Autosomal; Short Stature, Idiopathic, X-linked

NCBI Summary:This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
UniProt Code:O15266
NCBI GenInfo Identifier:6831676
NCBI Gene ID:6473
NCBI Accession:O15266.1
UniProt Secondary Accession:O15266,O00412, O00413, O15267,
UniProt Related Accession:O15266
Molecular Weight:25,501 Da
NCBI Full Name:Short stature homeobox protein
NCBI Synonym Full Names:short stature homeobox
NCBI Official Symbol:SHOX  
NCBI Official Synonym Symbols:SS; GCFX; PHOG; SHOXY  
NCBI Protein Information:short stature homeobox protein
UniProt Protein Name:Short stature homeobox protein
UniProt Synonym Protein Names:Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox-containing protein
Protein Family:Short stature homeobox protein
UniProt Gene Name:SHOX  
UniProt Entry Name:SHOX_HUMAN
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