Rabbit anti-Human PAM16 Polyclonal Antibody

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.