ESPN Gene

Definition:

The official name of ESPN is "espin",ESPN is the official Gene symbol,it is also knwon has DFNB36; LP2654; DKFZp434A196; DKFZp434G2126

Chromosome:1

Position:1p36.31; 1p36.31-p36.11

Gene Size: 36157 bp (6407435 to 6443591


No of  Exons: 13

Description:

ESPN  provides instruction for making a protein called espin.This protein is active ear where it plays important role in normal hearing and balance,it is believed to bind  with actin a protein that is important for cell movement and shape,it probably involved in the growth and maintiance of hair like projections called strereocilia,Espin may also play a role in other types of sensory cells. Some studies suggest that this protein is present in taste receptor cells, cells involved in recognizing smells, and Merkel cells in the skin, which are associated with the sense of touch. In these cells, espin is located in small, fingerlike structures called microvilli that project from the cell surface. Like stereocilia in the inner ear, microvilli contain a large amount of actin.

Disease :

Mutations in ESPN gene causes nonsyndromic deafness(hearing loss without related signs and symptoms affecting other parts of the body) called DFNB36.Several  mutations in ESPN gene  cause an autosomal recessive form of nonsyndromic deafness that includes problems with balance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. These genetic changes delete a small amount of DNA from critical regions of the ESPN gene. Researchers believe that these genetic changes may prevent the production of espin or lead to an abnormally small, nonfunctional version of the protein that cannot bind to actin. A loss of espin function likely disrupts the development, structure, and organization of stereocilia, leading to hearing loss and balance problems.