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- Table of Contents
Facts about DOMON domain-containing protein FRRS1L.
| Human | |
|---|---|
| Gene Name: | FRRS1L |
| Uniprot: | Q9P0K9 |
| Entrez: | 23732 |

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

Brain protein CG-6; C9orf4; CG6; CG-6; chromosome 9 open reading frame 4; ferric-chelate reductase 1-like; hypothetical protein LOC23732
Mass (kDA):
37.27 kDA

| Human | |
|---|---|
| Location: | 9q31.3 |
| Sequence: | 9; NC_000009.12 (109130293..109167249, complement) |
Expressed in adult and fetal brain. Very weak expression in medulla, spinal cord and in adult ovary.
Cell membrane. Cell junction, synapse.



PMID: 10603000 by Chadwick B.P., et al. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.
PMID: 27236917 by Madeo M., et al. Loss-of-function mutations in FRRS1L lead to an epileptic-dyskinetic encephalopathy.