NCLN Chromosome 19
Nicalin
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What This Gene Does
Enables ribosome binding activity. Involved in several processes, including multi-pass transmembrane protein insertion into ER membrane; protein stabilization; and regulation of protein complex stability. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"M28 metallopeptidases|BOS complex subunits"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000125912
Associated Conditions (3)
Hirschsprung disease
susceptibility to
1
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519322 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |