Transmembrane protein 14C (TMEM14C)

Transmembrane protein 14C (TMEM14C) is an inner mitochondrial membrane protein essential for terminal heme synthesis, particularly in the erythroid lineage. It facilitates the import of protoporphyrinogen IX, a crucial intermediate in the heme biosynthetic pathway, into the mitochondrial matrix. TMEM14C is highly conserved and enriched in hematopoietic tissues. Loss of TMEM14C function leads to a blockade in erythroid heme synthesis, accumulation of porphyrin precursors, maturation arrest of erythroid cells, and embryonic lethality due to profound anemia in animal models. Its absence is therefore implicated in certain forms of congenital anemia. There are currently no known drugs that directly interact with TMEM14C, nor is it established as a pharmacological target, but it is considered an essential component in heme metabolism[1][2][3][5]. Key supporting details: - TMEM14C is classified as a transporter protein located in the mitochondrial inner membrane[8]. - It is needed for normal heme biosynthesis, especially during erythropoiesis[2][1]. - TMEM14C gene defects result in failure of erythroid maturation and anemia due to the blockade of protoporphyrinogen IX import into mitochondria, precluding adequate heme production[1][5]. - Disease relevance is most established for hereditary anemias; cancer association is listed but not extensively validated[3]. - No drugs or direct targeting mechanisms are reported in current databases.

Other names

C6orf53HSPC194bA421M1.6NET26MSTP073