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PHOX2B

PHOX2B

Protein-coding gene in the species Homo sapiens

Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome

PHOX2B

Central hypoventilation syndrome

Sleep breathing disorder

understanding of how the body and brain regulate breathing on a molecular level. PHOX2B, a transcription factor involved in the development of neurons, can be associated

Central hypoventilation syndrome

Central_hypoventilation_syndrome

Central sleep apnea

Sleep-related disorder in which the effort to breathe is diminished

breathing during sleep. This condition involves a specific homeobox gene, PHOX2B, which guides maturation of the autonomic nervous system; certain loss-of-function

Central sleep apnea

Central_sleep_apnea

Chromosome 4

Human chromosome

cytoplasmic 4-like PARM1: Prostate androgen-regulated mucin-like protein 1 PHOX2B: codes for a homeodomain transcription factor PI4K2B: Phosphatidylinositol

Chromosome 4

Chromosome_4

Phox

Topics referred to by the same term

(band) PhoX, a proof assistant based on high order logic PHOX2A, a protein PHOX2B, a protein Phosphinooxazolines, a class of chiral ligands commonly abbreviated

Phox

Neuroblastoma

Genetically inherited cancer of certain nerve tissues

in the anaplastic lymphoma kinase (ALK) gene. Germline mutations in the PHOX2B or KIF1B gene have been implicated in familial neuroblastoma, as well. Neuroblastoma

Neuroblastoma

Intrinsic cardiac nervous system

Cardiac network of neurons and ganglia

and nodose placodes. Key factors like bone morphogenetic proteins (BMPs), PHOX2B, and HAND2 guide differentiation. The ICNS integrates sensory information

Intrinsic cardiac nervous system

Intrinsic_cardiac_nervous_system

PHOX2A

Protein-coding gene in humans

extraocular muscles (CFEOM2). PHOX2A has been shown to interact with HAND2. PHOX2B GRCh38: Ensembl release 89: ENSG00000165462 – Ensembl, May 2017 GRCm38:

PHOX2A

TLX2

Human protein-coding gene

I (April 2006). "The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells". The Biochemical Journal. 395 (2): 355–61

TLX2

Homeobox

DNA pattern affecting anatomy development

OTP; OTX1, OTX2, CRX; PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8; PHOX2A, PHOX2B; PITX1, PITX2, PITX3; PROP1; PRRX1, PRRX2; RAX, RAX2; RHOXF1, RHOXF2/2B;

Homeobox

List of human transcription factors

ENSG00000165462 Homeodomain Known motif – High-throughput in vitro [696] TAATTRVRTTA PHOX2B ENSG00000109132 Homeodomain Known motif – High-throughput in vitro [697]

List of human transcription factors

List_of_human_transcription_factors

ROHHAD

Medical condition

differentiated from one other, as patients with CCHS have mutations in the PHOX2B gene, whereas ROHHAD patients do not. The ROHHAD Association is an organization

ROHHAD

HSD2 neuron

factor Phox2b. This means that HSD2 neurons probably release the excitatory transmitter glutamate onto their synaptic target neurons, as all Phox2b-expressing

HSD2 neuron

HSD2_neuron

Stanislas Lyonnet

French geneticist

Polyalanine expansion and frame shift mutations of the paired-lik homeobox gene PHOX2B in congenital central hypoventilation syndrome (Ondine’s curse). Nat Genet

Stanislas Lyonnet

Stanislas_Lyonnet

List of human protein-coding genes 6

Q8TCT1 12093 PHOSPHO2 HGNC:28316; Q8TCD6 12094 PHOX2A HGNC:691; O14813 12095 PHOX2B HGNC:9143; Q99453 12096 PHPT1 HGNC:30033; Q9NRX4 12097 PHRF1 HGNC:24351;

List of human protein-coding genes 6

List_of_human_protein-coding_genes_6