PAM16
Domain
The J-like region, although related to the J domain does not have co-chaperone activity.
Function
Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.
Involvement in disease
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
SMDMDM
An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TIM16/PAM16 family.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Matrix side
Alternative names
MAGMAS, TIM16, TIMM16, CGI-136, PAM16, Mitochondrial import inner membrane translocase subunit TIM16, Mitochondria-associated granulocyte macrophage CSF-signaling molecule, Presequence translocated-associated motor subunit PAM16