What is Pax2a gene?
What is Pax2a gene?
Pax2a is expressed in oocytes and is responsible for early development and oogenesis in zebrafish. Pax2a and Pax8 regulate cell differentiation during sensory placode formation. Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.
What is the function of the PAX2 gene?
During embryonic development, the PAX2 gene provides instructions for producing a protein that is involved in the formation of the eyes, ears, brain and spinal cord (central nervous system), kidneys, urinary tract, and genital tract.
Where is the PAX2 gene located?
Other gene(s) are probably also responsible for this syndrome since PAX2 mutations are not found in approximately 50% of RCS patients. The PAX2 gene is located on chromosome 10q24–25; it encodes a transcription factor that belongs to the paired-box family of homeotic genes.
Is PAX2 a transcription factor?
The Pax2 gene encodes for the transcription factor which appears to be essential in the organization of the midbrain and hindbrain regions, and at the earliest can be detected on either side of the sulcus limitans, which separates motor and sensory nerve nuclei.
What is the renal coloboma syndrome?
Renal coloboma syndrome (RCS) is an autosomal dominant condition characterized by optic nerve dysplasia, often described as a coloboma and renal hypodysplasia. Optic nerve malformations include optic nerve coloboma, optic nerve dysplasia, morning glory anomaly and cystic malformation of the optic nerve.
Is PAX6 a Hox gene?
PAX6 is a member of the Pax gene family which is responsible for carrying the genetic information that will encode the Pax-6 protein.
How does coloboma affect the eye?
People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract ), increased pressure inside the eye (glaucoma ) that can damage the optic nerve, vision problems such as nearsightedness (myopia ), involuntary back-and-forth eye movements (nystagmus), or separation of the …
What does charge stand for?
CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.
What does PAX6 stand for?
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.
What chromosome is PAX6 on?
The PAX6 gene is located in a region of chromosome 11 that is deleted in people with WAGR syndrome, which is a disorder that affects many body systems and is named for its main features: a childhood kidney cancer known as Wilms tumor, an eye problem called anirida, genitourinary anomalies, and intellectual disability ( …
Are people with coloboma blind?
Some cases may go unnoticed because uveal coloboma does not always affect vision or the outside appearance of the eye. Uveal coloboma is a significant cause of blindness. Studies estimate that 5 to 10 percent of blind European children have uveal coloboma or uveal coloboma-related malformations.
Paired box gene 2, also known as PAX2 is a protein which in humans is encoded by the PAX2 gene. The Pax Genes, or Paired-Box Containing Genes, play important roles in the development and proliferation of multiple cell lines, development of organs, and development and organization of the central nervous system.
What is the meaning of the word PAX?
pax ( plural pax ) ( informal, usually in the plural) A passenger; passengers. ( informal, usually in the plural, by extension, hospitality industry) A guest (at an event or function).
Where is Pax2 located in the human body?
The Pax2 gene encodes for the transcription factor which appears to be essential in the organization of the midbrain and hindbrain regions, and at the earliest can be detected on either side of the sulcus limitans, which separates motor and sensory nerve nuclei.
Which is an example of a Pax2 misexpression?
Pax2 misexpression is frequently observed in proliferative disorders of the kidney. For example, Pax2 is highly expressed in polycystic kidney disease (PKD), Wilms’ tumor (WT), and renal cell carcinoma (RCC).