Rabbit ALX4 Polyclonal Antibody | anti-ALX4 antibody

ALX4 Antibody (Center)

Cat. Num. AAA9215240

• Gene Names: ALX4; CRS5; FND2
• Reactivity: Human (Predicted Reactivity: Bovine, Mouse)
• Applications: Western Blot, ELISA, Flow Cytometry, Functional Assay
• Purity: Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)
• Synonyms: ALX4; Polyclonal Antibody; ALX4 Antibody (Center); Homeobox protein aristaless-like 4; KIAA1788; anti-ALX4 antibody

• Host: Rabbit
• Reactivity: Human (Predicted Reactivity: Bovine, Mouse)
• Clonality: Polyclonal
• Isotype: Rabbit Ig
• Specificity: This ALX4 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 249-275 amino acids from the Central region of human ALX4.
• Purity/Purification: Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)
• 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.
• Concentration: Vial Concentration: 0.44 (varies by lot)
• Sequence Positions: 249-275
• Sequence Length: 411

• Applicable Applications for anti-ALX4 antibody: Western Blot (WB), ELISA (EIA), Flow Cytometry (FC/FACS)
• Application Notes: WB~~1:1000
• Antigen Type: Synthetic Peptide
• 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)

(ALX4 Antibody (Center) western blot analysis in MDA-MB435 cell line lysates (35ug/lane).This demonstrates the ALX4 antibody detected the ALX4 protein (arrow).)

Flow Cytometry (FC/FACS)

(ALX4 Antibody (Center) flow cytometric analysis of MDA-MB435 cells (right histogram) compared to a negative control cell (left histogram).FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Related Product Information for anti-ALX4 antibody

This gene encodes a paired-like homeodomain transcription
factor expressed in the mesenchyme of developing bones, limbs,
hair, teeth, and mammary tissue. Mutations in this gene cause
parietal foramina 2 (PFM2); an autosomal dominant disease
characterized by deficient ossification of the parietal bones.
Mutations in this gene also cause a form of frontonasal dysplasia
with alopecia and hypogonadism; suggesting a role for this gene in
craniofacial development, mesenchymal-epithelial communication, and
hair follicle development. Deletion of a segment of chromosome 11
containing this gene, del(11)(p11p12), causes Potocki-Shaffer
syndrome (PSS); a syndrome characterized by craniofacial anomalies,
mental retardation, multiple exostoses, and genital abnormalities
in males. In mouse, this gene has been shown to use dual
translation initiation sites located 16 codons apart. [provided by
RefSeq].

References

Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :
Tanzer, M., et al. PLoS ONE 5 (2), E9061 (2010) :
Kayserili, H., et al. Hum. Mol. Genet. 18(22):4357-4366(2009)
Chang, H., et al. J. Clin. Pathol. 62(10):908-914(2009)
Drenos, F., et al. Hum. Mol. Genet. 18(12):2305-2316(2009)

NCBI and Uniprot Product Information

• NCBI GI #: 55743092
• NCBI GeneID: 60529
• NCBI Accession #: NP_068745.2
• NCBI GenBank Nucleotide #: NM_021926.3
• UniProt Accession #: Q9H161; Q96JN7; Q9H198; Q9HAY9
• Molecular Weight: 44241
• NCBI Official Full Name: homeobox protein aristaless-like 4
• NCBI Official Synonym Full Names: ALX homeobox 4
• NCBI Official Symbol: ALX4
• NCBI Official Synonym Symbols: CRS5; FND2
• NCBI Protein Information: homeobox protein aristaless-like 4
• UniProt Protein Name: Homeobox protein aristaless-like 4
• Protein Family: Homeobox protein
• UniProt Gene Name: ALX4
• UniProt Synonym Gene Names: KIAA1788
• UniProt Entry Name: ALX4_HUMAN

NCBI Description

This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

Uniprot Description

ALX4: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. Defects in ALX4 are the cause of parietal foramina 2 (PFM2); also known as foramina parietalia permagna (FPP). PFM2 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki- Shaffer syndrome. Defects in ALX4 are the cause of frontonasal dysplasia type 2 (FND2). The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. Defects in ALX4 are a cause of Potocki-Shaffer syndrome (POSHS). A contiguous gene syndrome caused by deletion of the 11p11.2 region. Belongs to the paired homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 11p11.2

Cellular Component: transcription factor complex; nucleus

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

Biological Process: embryonic forelimb morphogenesis; muscle development; transcription, DNA-dependent; palate development; embryonic hindlimb morphogenesis; embryonic skeletal morphogenesis; post-embryonic development; regulation of apoptosis; anterior/posterior pattern formation; gut development; hair follicle development; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; skeletal development

Disease: Craniosynostosis 5, Susceptibility To; Parietal Foramina 2; Frontonasal Dysplasia 2