What are the diseases associated with the fhl2 gene?
What are the diseases associated with the fhl2 gene?
FHL2 (Four And A Half LIM Domains 2) is a Protein Coding gene. Diseases associated with FHL2 include Familial Isolated Dilated Cardiomyopathy and Rhabdomyosarcoma . Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism .
Is the FHL1 gene responsible for muscular dystrophy?
In 2008 this was borne out by the discovery that defects in the FHL1 gene are responsible for a number of Muscular dystrophy -like muscle disorders, ranging from severe, childhood onset diseases through to adult-onset disorders similar to Limb girdle muscular dystrophy.
What are MGI mutant phenotypes for FHL2 protein?
MGI mutant phenotypes for FHL2: An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.
Where are FHL1, FHL2 and FHL5 expressed?
FHL1, FHL2 and FHL3 are predominantly expressed in muscle, while FHL4 and FHL5 are expressed exclusively in testis. FHL2 is the best studied member within the subfamily. The protein is encoded by the fhl2 gene being mapped in the region of human chromosome 2q12-q14.
Which is the best studied member of the subfamily FHL2?
FHL2 is the best studied member within the subfamily. The protein is encoded by the fhl2 gene being mapped in the region of human chromosome 2q12-q14. Two alternative promoters, 1a and 1b, as well as 5 transcript variants of fhl2 have been reported.
How are FHL1 and FHL2 related to colon cancer?
High FHL2 expression is associated with colon cancer. Data suggest Fhl1 (four-and-a-half LIM domains protein 1) and FHL2 (four-and-a-half LIM domains protein 2) bind to and regulate activity of Prkd1 (protein kinase D 1) in cardiac/ventricular myocytes; knockdown of FHL2 down-regulates Prkd1 activation.