Rabbit anti-Human SHOX Polyclonal Antibody | anti-SHOX antibody

SHOX Antibody (N-term)

Cat. Num. AAA9216732

• Gene Names: SHOX; SS; GCFX; PHOG; SHOXY
• Reactivity: Human
• Applications: Western Blot
• Synonyms: SHOX; Polyclonal Antibody; SHOX Antibody (N-term); Purified Rabbit Polyclonal Antibody (Pab); Short stature homeobox protein; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox-containing protein; PHOG; anti-SHOX antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Ig
• Specificity: This SHOX antibody is generated from a rabbit immunized with a KLH conjugated synthetic peptide between 4-38 amino acids from the N-terminal region of human SHOX.
• Form/Format: Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.
• Sequence Length: 292

• Applicable Applications for anti-SHOX antibody: Western Blot (WB)
• Application Notes: WB ~~ 1:2000
• Antigen Source: Human
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Western Blot (WB)

(All lanes : Anti-SHOX Antibody (N-term) at 1:2000 dilutionLane 1: 293T/17 whole cell lysateLane 2: human pancreas lysateLysates/proteins at 20 ug per lane.SecondaryGoat Anti-Rabbit IgG, (H+L), Peroxidase conjugated at 1/10000 dilution.Predicted band size : 32 kDaBlocking/Dilution buffer: 5% NFDM/TBST.)

Related Product Information for anti-SHOX antibody

Controls fundamental aspects of growth and development.

Product Categories/Family for anti-SHOX antibody

Signal Transduction

References

Rao E.,et al.Nat. Genet. 16:54-63(1997). Ellison J.W.,et al.Hum. Mol. Genet. 6:1341-1347(1997). Ross M.T.,et al.Nature 434:325-337(2005). Grigelioniene G.,et al.Hum. Genet. 107:145-149(2000). Cormier-Daire V.,et al.Am. J. Med. Genet. 106:272-274(2001).

NCBI and Uniprot Product Information

• NCBI GI #: 4506943
• NCBI GeneID: 6473
• NCBI Accession #: NP_000442.1
• NCBI GenBank Nucleotide #: NM_000451.3
• UniProt Accession #: O15266; O00412; O00413; O15267
• Molecular Weight: 32236
• NCBI Official Full Name: short stature homeobox protein isoform SHOXa
• NCBI Official 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
• Protein Family: Short stature homeobox protein
• UniProt Gene Name: SHOX
• UniProt Synonym Gene Names: PHOG
• UniProt Entry Name: SHOX_HUMAN

NCBI Description

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 Description

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.

Protein type: Transcription factor; DNA-binding

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

Cellular Component: nucleus

Molecular Function: protein binding; sequence-specific DNA binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; skeletal development

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