Recombinant Human Mitochondrial import inner membrane translocase subunit TIM16 (PAM16)

Uniprot Id

Q9Y3D7

Target Species

Human

Target Name

PAM16

Target Full Name

Mitochondrial import inner membrane translocase subunit TIM16

Target Function

Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.

Target Involvement

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Target Protein Families

TIM16/PAM16 family

Target Tissue Specificity

Ubiquitously expressed.

Target Research Area

Signal Transduction

Target Synonyms

CGI-136; MAGMAS; Magmas like protein; Mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction; Mitochondria-associated granulocyte macrophage CSF-signaling molecule; Mitochondrial import inner membrane translocase subunit TIM16; PAM16; Presequence translocase-associated motor 16 homolog (S. cerevisiae); Presequence translocated-associated motor subunit PAM16; TIM16; TIM16_HUMAN; TIMM16

Target Background

This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities.