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PHOX2A paired-like homeobox 2a [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005169 Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol PHOX2A
Entrez Gene ID 401
Full Name paired-like homeobox 2a
Synonyms ARIX, CFEOM2, FEOM2, MGC52227, NCAM2, PMX2A
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13.2

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].
Disorder

MIM: 602753

Fibrosis of extraocular muscles, congenital, 2, 602078 (3)

mRNA Protein Product Sequence Price Select
NM_005169, 188536104 NP_005160, 46249382 paired mesoderm homeobox protein 2A ORF Sequence $300.00
WikiPathways
WP706SIDS Susceptibility Pathways
Homo sapiens (human)PHOX2ANP_005160.2
Canis lupus familiaris (dog)PHOX2AXP_542326.2
Bos taurus (cattle)PHOX2ANP_001179086.1
Mus musculus (house mouse)Phox2aNP_032913.1
Rattus norvegicus (Norway rat)Phox2aNP_446321.1
Danio rerio (zebrafish)phox2aNP_996953.1
GeneCards PHOX2A
UniProt O14813
MIM 602753
Ensembl ENSG00000165462
HGNC 691
HPRD 04129

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
paired mesoderm homeobox protein 2A
Names
paired mesoderm homeobox protein 2A
arix homeodomain protein
ARIX1 homeodomain protein
aristaless homeobox homolog
aristaless homeobox protein homolog

Interactant



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