PAM16: Presequence Translocase-Associated Motor 16
Mitochondrial import motor subunit and MAGMAS homolog
Gene Information Card
| Symbol | PAM16 |
|---|---|
| Full Name | Presequence Translocase-Associated Motor 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51025 ncbi.nlm.nih.gov/gene/51025 |
| Ensembl ID | ENSG00000103510 |
| UniProt ID | Q9Y3D7 |
| OMIM ID | 614336 |
| HGNC ID | 29679 |
| Aliases | MAGMAS, TIM16, SMDC1 |
Description
PAM16 encodes a subunit of the presequence translocase-associated motor (PAM) complex in mitochondria. The protein, also known as MAGMAS (mitochondria-associated granulocyte macrophage colony-stimulating factor signaling), functions as a negative regulator of the PAM complex by inhibiting the ATPase activity of HSPA9 (mortalin). It is essential for mitochondrial protein import and cellular viability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic Paraplegia 76, Autosomal Recessive | Loss-of-function mutations in PAM16 impair mitochondrial protein import, leading to neurodegeneration | PMID: 27018475 |
| Mitochondrial Complex I Deficiency | Disrupted PAM complex function reduces mitochondrial respiratory chain assembly | PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Brain | 7.2 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.0 | Medium expression |
| K562 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197C>T (p.Pro66Leu) | Missense | Rare | Reduced protein stability and PAM complex function |
| c.340G>A (p.Gly114Arg) | Missense | Rare | Impaired interaction with HSPA9 |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro66Leu) reduce PAM16 stability and disrupt mitochondrial import, leading to recessive spastic paraplegia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial presequence translocase complex | • Protein import into mitochondrial matrix |
| • ATPase inhibitor activity | • Chaperone binding |
Pathways
• Mitochondrial protein import (PAM complex)
• TIM23 translocase pathway
Protein Summary
PAM16 is a 16 kDa mitochondrial inner membrane protein that forms a heterodimer with PAM18 (DNAJC19). It negatively regulates the ATPase activity of HSPA9, ensuring proper timing of protein translocation into the mitochondrial matrix. The protein is highly conserved and essential for cell growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAM16 Knockout HEK293 Cell Line | EDJ-KQ51272 | Human | 51025 | Details Get a Quote |
| CORO7-PAM16 Knockout HEK293 Cell Line | EDJ-KQ52493 | Human | 100529144 | Details Get a Quote |
| PAM16 Knockout HeLa Cell Line | EDJ-KQ56213 | Human | 51025 | Details Get a Quote |
| CORO7-PAM16 Knockout HeLa Cell Line | EDJ-KQ60956 | Human | 100529144 | Details Get a Quote |
| PAM16 Knockout A-549 Cell Line | EDJ-KQ64704 | Human | 51025 | Details Get a Quote |
| CORO7-PAM16 Knockout A-549 Cell Line | EDJ-KQ69431 | Human | 100529144 | Details Get a Quote |
| PAM16 Knockout HCT 116 Cell Line | EDJ-KQ73150 | Human | 51025 | Details Get a Quote |
| CORO7-PAM16 Knockout HCT 116 Cell Line | EDJ-KQ77782 | Human | 100529144 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
