webmd symptom checker helps you find the most common medical conditions indicated by the symptoms frequent urination itching or burning pain during erection and pain with sexual intercourse male including urinary tract infection uti diabetes type 2 and liceebmd symptom checker helps you find the most common medical conditions indicated by the symptoms frequent urination itching or burning pain during erection and pain with sexual intercourse male including urinary tract infection uti diabetes type 2 and lice
FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP.This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.s a result, this part of the FMR1 gene is methylated, which silences the gene (it is turned off and does not make any protein). Without adequate FMRP, severe learning deficits or mental retardation can develop, along with physical abnormalities seen in fragile X syndrome.
The gene responsible for HGPS is called LMNA (pronounced âlamin-aâ). Within this gene there is a change in one piece of DNA that is responsible for Progeria. This type of gene change is called a point mutation. The LMNA gene makes a protein called Lamin A, which is an important protein for most cells of our bodies. Lamin A is found in the cell nucleus (the part of each cell that contains the DNA), and helps maintain the shape and function of the cell. The point mutation compromises that cell integrity, causing Progeria.