PHOX2A antibody - N-terminal region (ARP31726_P050)
- Known as:
- PHOX2A (anti-) - N-terminal region (ARP31726_P050)
- Catalog number:
- arp31726_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- PHOX2A antibody - N-terminal region (ARP31726_P050)
Related genes to: PHOX2A antibody - N-terminal region (ARP31726_P050)
- Gene:
- PHOX2A NIH gene
- Name:
- paired like homeobox 2A
- Previous symbol:
- ARIX, FEOM2
- Synonyms:
- PMX2A, CFEOM2
- Chromosome:
- 11q13.4
- Locus Type:
- gene with protein product
- Date approved:
- 1995-12-11
- Date modifiied:
- 2018-07-16
Related products to: PHOX2A antibody - N-terminal region (ARP31726_P050)
Related articles to: PHOX2A antibody - N-terminal region (ARP31726_P050)
- Strabismus, or misalignment of the eyes, is a heritable disorder frequently associated with vision loss and decreased quality of life. Incomitant strabismus, where the degree of misalignment differs based on gaze angle, can arise from mutations in genes that regulate the development of extraocular motor neurons. To date, few such genes have been identified. The extraocular motor system is highly conserved across vertebrates, suggesting a comparative transcriptomic discovery approach would be fruitful. Using bulk and single-cell sequencing in a small accessible vertebrate, the larval zebrafish, we identified genes expressed in subpopulations of extraocular motor neurons in cranial nuclei nIII/nIV. We next assessed extraocular motor neuron number and vestibulo-ocular reflex performance after CRISPR/Cas9-mediated mutagenesis of three genes with suggestive expression patterns: , , , and one known to disrupt nIII/nIV motor neuron specification: . Loss of impaired the vestibulo-ocular reflex without change to nIII/nIV motor neuron number. Our data suggest that constitutive disruptions to can impair nIII/nIV-dependent eye movements. More broadly, our work illuminates considerable transcriptomic diversity among extraocular motor neuron subpopulations, and establishes a pipeline to identify genes relevant to ocular motor disease etiology. - Source: PubMed
Publication date: 2026/04/08
Gershowitz EmilyHamling Kyla RoseRosti BaşakGelnaw HannahXiang GraceQuainoo CherylGoldblatt DenaLeary PaigeSchoppik David - Congenital cranial dysinnervation disorders (CCDDs) are a group of rare, nonprogressive conditions characterized by abnormal development of the cranial motor nerves and variable ocular motility deficits, ptosis, incomitant strabismus, and facial palsy. Advances in genetics and neuroimaging have revealed that these disorders result from defects in neuronal differentiation or axon guidance of the cranial motor neurons. Duane retraction syndrome, the most common CCDD, results from the absence of the abducens nerve and innervation of the lateral rectus by oculomotor nerve axons; causative genes include CHN1, MAFB, HOXA1, SALL4, and EBF3, although most cases do not have a genetic diagnosis. Congenital fibrosis of the extraocular muscles (CFEOM), results from variants in KIF21A, PHOX2A, TUBB3, or other tubulin genes, and affects the oculomotor and trochlear nerves. Horizontal gaze palsy with progressive scoliosis (HGPPS), caused by ROBO3 loss of function, arises from failure of axonal midline crossing in the brainstem. Moebius syndrome, defined by abducens and facial nerve palsies, has no identified genetic cause and may result from non-Mendelian causes. Additional CCDDs with atypical or syndromic presentations are linked to COL25A1, ECEL1, and ACKR3, although many do not have a genetic explanation. The expanding list of CCDD-associated genes highlights shared developmental pathways, including neuronal differentiation, axon guidance, and microtubule dynamics. Improved genetic diagnosis informs prognosis and multidisciplinary management. This review synthesizes current understanding of CCDDs, emphasizing the shift from phenotypic classification to molecular subtyping, and underscores the importance of ongoing research to resolve genetically unsolved cases and refine diagnostic and therapeutic strategies. - Source: PubMed
Publication date: 2026/03/23
Aufderheide KathleenWhitman Mary C - While acute itch comprises histamine-dependent and -independent subtypes, critical mechanisms underlying histamine-independent itch remain poorly understood. This study investigates the role of paired-like homeobox 2a (Phox2a) in tachykinin 1-positive (Tac1) neurons of the lateral spinal nucleus (LSN) as a novel target for histamine-independent pruritus intervention. - Source: PubMed
Chen Yu-LingLi Zi-AngWang Qing-ZhenWu Xin-RanMao ELiu Yao-HuaCai Zhi-PingLi Yun-QingKou Zhen-Zhen - Congenital central hypoventilation syndrome (CCHS) is primarily caused by dominant PHOX2B mutations, with recessive LBX1 or MYO1H mutations being rare. Among PHOX2B mutations, polyalanine repeat expansion mutations (PARMs) are common, whereas non-PARMs (NPARMs) are less frequent. PHOX2B mutations are believed to act through loss-of-function mechanisms combined with dominant-negative and/or toxic gain-of-function effects. However, the role of PHOX2B haploinsufficiency remains unclear. We investigated the role of PHOX2B deletion and other genetic modifiers in CCHS. Among 93 patients without PHOX2B mutations, four were found to carry PHOX2B deletions via multiplex ligation-dependent probe amplification. Two had typical CCHS, whereas two siblings presented with mild sleep hypoventilation following CCHS symptoms in infancy. After ruling out pathogenic variants in LBX1 and MYO1H, we explored potential modifiers by analyzing sequence and methylation changes in the wild-type PHOX2B promoter and 3' untranslated region (3'UTR), and the coding regions of PHOX2A and MIR204. One female patient with CCHS carried a 3'UTR haplotype predicted to reduce PHOX2B expression via MIR204 interaction. To date, 15 informative cases with PHOX2B deletions (eight males, seven females) have been reported. Respiratory phenotypes included: CCHS (n = 5), CCHS with obstructive sleep apnea (OSA) (n = 1), OSA alone (n = 2), mild central sleep apnea (n = 1), mild central sleep hypoventilation or apnea following CCHS symptoms in infancy (n = 3), and asymptomatic (n = 3). These indicate that although a heterozygous PHOX2B deficiency alone is insufficient to cause CCHS, it may delay or impair the development of respiratory control. - Source: PubMed
Publication date: 2025/11/05
Hayasaka KiyoshiSasaki AyakoKishikawa YumikoAbiko YuArakaki HarukaYasukohchi MadokaTakayama JunTamiya GenHasegawa HisayaUeda AtsushiOsawa MotokiMitsui Tetsuo - Multiple myeloma (MM) is an incurable malignancy that arises from precursory conditions, specifically monoclonal gammopathy of unknown significance (MGUS) and smoldering multiple myeloma (SMM). The pathogenesis of MM remains largely elusive, particularly in the context of epigenetics. - Source: PubMed
Publication date: 2025/10/27
Łuczkowska KarolinaBrzosko MartynaStodolak PatrycjaKulig PiotrSommerfeld KrzysztofStukan IgaBaumert BartłomiejJurewicz AlinaBohatyrewicz AndrzejPaczkowska EdytaMachaliński Bogusław