PAM16 Chromosome 16
Presequence translocase associated motor 16
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What This Gene Does
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. [provided by RefSeq, May 2017]
Gene Info
Gene Group
TIM23 complex
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000217930
Associated Conditions (2)
Autosomal recessive spondylometaphyseal dysplasia
Megarbane type
Key Variants
RS1596247721
Pathogenic
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type, Autosomal recessive spondylometaphyseal dysplasia
Health Risk
RS786203989
Pathogenic
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type, Autosomal recessive spondylometaphyseal dysplasia
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1596247721 | Health Risk | Pathogenic | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type, Autosomal recessive spondylometaphyseal dysplasia |
| RS786203989 | Health Risk | Pathogenic | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type, Autosomal recessive spondylometaphyseal dysplasia |