Description
Antibody Name: | PHOX2A Antibody (PACO56924) |
Antibody SKU: | PACO56924 |
Size: | 50ug |
Host Species: | Rabbit |
Tested Applications: | ELISA, IHC |
Recommended Dilutions: | ELISA:1:2000-1:10000, IHC:1:200-1:500 |
Species Reactivity: | Human |
Immunogen: | Recombinant Human Paired mesoderm homeobox protein 2A protein (150-264AA) |
Form: | Liquid |
Storage Buffer: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
Purification Method: | >95%, Protein G purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
![]() | IHC image of PACO56924 diluted at 1:300 and staining in paraffin-embedded human testis tissue performed on a Leica BondTM system. |
Background: | May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype. |
Synonyms: | Paired mesoderm homeobox protein 2A (ARIX1 homeodomain protein) (Aristaless homeobox protein homolog) (Paired-like homeobox 2A), PHOX2A, ARIX PMX2A |
UniProt Protein Function: | PHOX2A: May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype. Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2). CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. Belongs to the paired homeobox family.Protein type: Transcription factor; DNA-bindingChromosomal Location of Human Ortholog: 11q13.2Cellular Component: nuclear chromatinMolecular Function: transcription factor activityBiological Process: sympathetic nervous system development; regulation of respiratory gaseous exchange; trochlear nerve formation; transcription, DNA-dependent; oculomotor nerve formation; somatic motor neuron differentiation; midbrain development; positive regulation of transcription from RNA polymerase II promoter; locus ceruleus developmentDisease: Fibrosis Of Extraocular Muscles, Congenital, 2 |
UniProt Protein Details: | |
NCBI Summary: | The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008] |
UniProt Code: | O14813 |
NCBI GenInfo Identifier: | 46249382 |
NCBI Gene ID: | 401 |
NCBI Accession: | NP_005160 |
UniProt Secondary Accession: | O14813 |
UniProt Related Accession: | O14813 |
Molecular Weight: | |
NCBI Full Name: | paired mesoderm homeobox protein 2A |
NCBI Synonym Full Names: | paired like homeobox 2A |
NCBI Official Symbol: | PHOX2A |
NCBI Official Synonym Symbols: | ARIX; FEOM2; NCAM2; PMX2A; CFEOM2 |
NCBI Protein Information: | paired mesoderm homeobox protein 2A |
UniProt Protein Name: | Paired mesoderm homeobox protein 2A |
UniProt Synonym Protein Names: | ARIX1 homeodomain protein; Aristaless homeobox protein homolog; Paired-like homeobox 2A |
Protein Family: | |
UniProt Gene Name: | PHOX2A |
UniProt Entry Name: | PHX2A_HUMAN |