PAM16 (Gene)

Organism:

Homo sapiens

Synonyms:CGI-136, ENTREZ:51025, HGNC:29679, MAGMAS, MIM:614336, NM_016069, NP_057153, PAM16, SMDMDM, TIM16, TIMM16, presequence translocase associated motor 16

Id:ENSG00000282228

Description:presequence translocase associated motor 16 [Source:HGNC Symbol;Acc:HGNC:29679]

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]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PAM16's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with PAM16.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PAM16.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for PAM16.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with PAM16.

Results found

Linked to

	Label	Description
	Hypertension Phenotype (Entity type)	The presence of chronic increased pressure in the systemic arterial system.
	Small for gestational age Phenotype (Entity type)	Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

Hypertension

Phenotype (Entity type)

The presence of chronic increased pressure in the systemic arterial system.

Small for gestational age

Phenotype (Entity type)

Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.