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Gene : PAM16 Homo sapiens

Name  ? presequence translocase associated motor 16 Cytological Location  16p13.3
Brief Description  presequence translocase associated motor 16
description  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]
  • synonyms:
  • AK026514,
  • mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction,
  • MAGMAS,
  • SMDMDM,
  • TIMM16,
  • CGI-136,
  • presequence translocase-associated motor 16 homolog (S. cerevisiae),
  • TIMM16,
  • Tim16,
  • Magmas,
  • presequence translocase associated motor 16 homolog,
  • HGNC:29679,
  • uc059qdf.1,
  • OTTHUMG00000129466,
  • TIM16,
  • PAM16,
  • NM_016069
  • identifiers:
  • 51025,
  • ENSG00000217930,
  • PAM16

Genome feature

Region: gene ? Length: 11151  
Location: 16:4340249-4351399 reverse strand Cyto location: 16p13.3


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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

2011 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results