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- Table of Contents

Facts about Protein unc-80 homolog.
UNC80 is vital for NALCN sensitivity to extracellular calcium. .
| Human | |
|---|---|
| Gene Name: | UNC80 |
| Uniprot: | Q8N2C7 |
| Entrez: | 285175 |

| Belongs to: |
|---|
| unc-80 family |

C2orf21; FLJ14677; FLJ33496; FLJ53903; KIAA1843; protein unc-80 homolog; unc-80 homolog (C. elegans); UNC-80; WUGSC:H_NH0436C12.1
Mass (kDA):
363.39 kDA

| Human | |
|---|---|
| Location: | 2q34 |
| Sequence: | 2; NC_000002.12 (209771832..209999300) |
Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum.
Membrane; Multi-pass membrane protein.


PMID: 26545877 by Perez Y., et al. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
PMID: 26708751 by Stray-Pedersen A., et al. Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability.