HSPA9
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Mitochondrial 70kDa heat shock protein (mtHsp70), also known as mortalin, is a protein that in humans is encoded by the HSPA9 gene.[5][6]
Function
The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein plays a role in the control of cell proliferation. It may also act as a chaperone.[6]
Interactions
Clinical relevance and genetic deficiency
In 2015, a group around Andrea Superti-Furga showed that biallelic variants in the HSPA9 gene may result in a combination of congenital malformations called the EVEN-PLUS syndrome.[9][10] These genetic variants have been shown to interfere with normal HSPA9 function [11]
