TPD52L1
Description
The TPD52L1 (TPD52 like 1) is a protein-coding gene located on chromosome 6.
The TPD52L1 gene encodes a protein belonging to the tumor protein D52 (TPD52) family. The protein contains a coiled-coil domain, which may allow it to form homo- or hetero-dimers with other members of the TPD52 family. It has been implicated in cell proliferation and calcium signaling. The protein interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and promotes apoptosis triggered by MAP3K5. Multiple transcript variants have been observed, but the complete structure of some variants is still under investigation.
The TPD52L1 gene encodes a protein that may play a role in cell proliferation and calcium signaling. It interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and promotes apoptosis induced by MAP3K5. Multiple variations of the gene have been identified, but the complete structure of some is still unknown.
TPD52L1 is also known as D53, TPD53.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- cancer
