This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Protein C19orf12.
| Human | |
|---|---|
| Gene Name: | C19orf12 |
| Uniprot: | Q9NSK7 |
| Entrez: | 83636 |

| Belongs to: |
|---|
| No superfamily |

chromosome 19 open reading frame 12
Mass (kDA):
16.286 kDA

| Human | |
|---|---|
| Location: | 19q12 |
| Sequence: | 19; NC_000019.10 (29698886..29715789, complement) |
Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol. In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria.




PMID: 23521069 by Schottmann G., et al. A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
PMID: 21981780 by Hartig M.B., et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.