Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene. [5] [6] [7]
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2). [7]
Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites.
Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. It is encoded by the gene SLC9A3R1. It is also known as ERM Binding Protein 50 (EBP50) or Na+/H+ Exchanger Regulatory Factor (NHERF1). It is believed to interact via long-range allostery, involving significant protein dynamics.
Calpain-1 catalytic subunit(CANP 1) is a protein that in humans is encoded by the CAPN1 gene.
Cux1 is a homeodomain protein that in humans is encoded by the CUX1 gene.
5'-AMP-activated protein kinase subunit beta-1 is an enzyme that in humans is encoded by the PRKAB1 gene.
This gene encodes a member of the G protein-coupled receptor kinase subfamily of the Ser/Thr protein kinase family, and is most highly similar to GRK4 and GRK5. The protein phosphorylates the activated forms of G protein-coupled receptors to regulate their signaling.
LIM/homeobox protein Lhx3 is a protein that in humans is encoded by the LHX3 gene.
H+/Cl− exchange transporter 3 is a protein that in humans is encoded by the CLCN3 gene.
cAMP-dependent protein kinase type I-beta regulatory subunit is an enzyme that in humans is encoded by the PRKAR1B gene.
Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.
Prolyl 4-hydroxylase subunit alpha-1 is an enzyme that in humans is encoded by the P4HA1 gene.
Enhancer of polycomb homolog 1 is a protein that in humans is encoded by the EPC1 gene.
Heart- and neural crest derivatives-expressed protein 2 is a protein that in humans is encoded by the HAND2 gene.
CAMP responsive element binding protein-like 1, also known as CREBL1, is a protein which in humans is encoded by the CREBL1 gene.
Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.
25-hydroxycholesterol 7-alpha-hydroxylase also known as oxysterol and steroid 7-alpha-hydroxylase is an enzyme that in humans is encoded by the CYP7B1 gene. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.
Visual system homeobox 2 is a protein that in humans is encoded by the VSX2 gene.
Homeobox protein MOX-1 is a protein that in humans is encoded by the MEOX1 gene.
Congenital fibrosis of the extraocular muscles is a class of rare genetic disorders affecting one or more of the muscles that move the eyeballs. Individuals with congenital fibrosis of the extraocular muscles (CFEOM) have varying degrees of ophthalmoplegia and ptosis. The condition is present from birth, non-progressive, runs in families, and usually affects both eyes similarly. In the most common form, the superior recti are dysfunctional and the inferior recti, lacking proper opposition, pull the eyes down, forcing the head to be tilted upward in order to see straight ahead.
DBH-like monooxygenase protein 1, also known as monooxygenase X, is an enzyme that in humans is encoded by the MOXD1 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.