DISEASES

Disease-gene associations mined from literature

Literature associating PRELID1 and hypertrophic cardiomyopathy 2

PRELID1 [ENSP00000302114]

PRELI domain-containing protein 1, mitochondrial; Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4- induced Th2 cell number. May be important for the development of vital and immunocompetent organs.

Synonyms:  PRELID1,  PRELID1p,  hPRELID1,  D6RC47,  D6REW1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM