SHOX blocking peptide

SHOX Blocking Peptide (N-term)

• Gene Names: SHOX; SS; GCFX; PHOG; SHOXY
• Synonyms: SHOX; SHOX Blocking Peptide (N-term); Short stature homeobox protein; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox-containing protein; PHOG; SHOX blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 4-18 of HUMAN SHOX
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 292

• Function: Controls fundamental aspects of growth anddevelopment.
• Cellular Location: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,ECO:0000255|PROSITE-ProRule:PRU00138}
• Tissue Location: SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for SHOX blocking peptide

Controls fundamental aspects of growth and development.

NCBI and Uniprot Product Information

• NCBI GI #: 6831676
• NCBI GeneID: 6473
• UniProt Accession #: O15266; O00412; O00413; O15267
• Molecular Weight: 25,501 Da
• NCBI Official Full Name: Short stature homeobox protein
• 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

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