PAM16

Chr 16AR

presequence translocase associated motor 16

Also known as: CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16

NCBI Gene: 51025ENSG00000217930UniProt: Q9Y3D7OMIM: 614336

The protein regulates ATP-dependent protein translocation into the mitochondrial matrix and inhibits DNAJC19 stimulation of HSPA9 ATPase activity. Mutations cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay, and skeletal abnormalities. Inheritance is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM, UniProt
DNmechanismARLOEUF 0.861 OMIM phenotype
Clinical Summary— PAM16
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.86LOEUF
pLI 0.235
Z-score 1.82
OE 0.27 (0.11–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.51Z-score
OE missense 1.16 (0.98–1.38)
94 obs / 81.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.27 (0.11–0.86)
0≤0.351.4
Missense OE1.16 (0.98–1.38)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 2 / 7.3Missense obs/exp: 94 / 81.1Syn Z: 0.01
DN
0.7229th %ile
GOF
0.5562th %ile
LOF
0.2580th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAM16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Lon/Pim1-mediated degradation of presequence translocase-associated motor components Pam16 and Pam18 in Saccharomyces cerevisiae.
Boggula Y et al.·Biochem J
2025Open Access
Pam16 and Pam18 were repurposed during Trypanosoma brucei evolution to regulate the replication of mitochondrial DNA.
von Känel C et al.·PLoS Biol
2024Open Access
Coupling to Pam16 differentially controls the dual role of Pam18 in protein import and respiratory chain formation.
Priesnitz C et al.·Cell Rep
2022
Common functions of the chloroplast and mitochondrial co-chaperones cpDnaJL (CDF1) and mtDnaJ (PAM16) in protein import and ROS scavenging in Arabidopsis thaliana.
Gray J et al.·Commun Integr Biol
2016Open Access
Comparative analysis of putative orthologues of mitochondrial import motor subunit: Pam18 and Pam16 in plants.
Chen X et al.·PLoS One
2013Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients