ALX homeobox 4, ELISA Kit

Human Homeobox protein aristaless-like 4 (ALX4) ELISA kit; KIAA1788; aristaless-like homeobox 4; homeodomain transcription factor ALX4; ALX homeobox 4

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of ALX4 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9326601 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the ALX homeobox 4 (ALX4) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing ALX4. The ELISA analytical biochemical technique of the MBS9326601 kit is based on ALX4 antibody-ALX4 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect ALX4 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, ALX4. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

44,241 Da

ALX homeobox 4

homeobox protein aristaless-like 4; aristaless-like homeobox 4; homeodomain transcription factor ALX4

Homeobox protein aristaless-like 4

KIAA1788  [Similar Products]

ALX4_HUMAN

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 (P***); 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]

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 (P***); also known as foramina parietalia permagna (FPP). P*** 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. P*** 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; protein heterodimerization activity; sequence-specific DNA binding; transcription factor activity

Biological Process: embryonic forelimb morphogenesis; muscle development; transcription, DNA-dependent; palate development; embryonic hindlimb morphogenesis; embryonic skeletal morphogenesis; post-embryonic development; anterior/posterior pattern formation; regulation of apoptosis; 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

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