CCDC47 Chromosome 17
Coiled-coil domain containing 47
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What This Gene Does
Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and multi-pass transmembrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex and protein folding chaperone complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
PAT complex subunits
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000108588
Associated Conditions (5)
Global developmental delay with dysmorphic features
liver dysfunction
pruritus
and woolly hair
Trichohepatoneurodevelopmental syndrome
Key Variants
RS1568246398
Likely pathogenic
Global developmental delay with dysmorphic features, liver dysfunction, pruritus
Health Risk
RS749027804
Likely pathogenic
Trichohepatoneurodevelopmental syndrome, Global developmental delay with dysmorphic features, liver dysfunction
Health Risk
RS750123815
Likely pathogenic
Trichohepatoneurodevelopmental syndrome, Global developmental delay with dysmorphic features, liver dysfunction
Health Risk
RS763844532
Likely pathogenic
Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome
Health Risk
RS765103846
Likely pathogenic
Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome
Health Risk
RS1319907329
Pathogenic
Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome
Health Risk
RS1269750663
Pathogenic/Likely pathogenic
Global developmental delay with dysmorphic features, liver dysfunction, pruritus
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1568246398 | Health Risk | Likely pathogenic | Global developmental delay with dysmorphic features, liver dysfunction, pruritus |
| RS749027804 | Health Risk | Likely pathogenic | Trichohepatoneurodevelopmental syndrome, Global developmental delay with dysmorphic features, liver dysfunction |
| RS750123815 | Health Risk | Likely pathogenic | Trichohepatoneurodevelopmental syndrome, Global developmental delay with dysmorphic features, liver dysfunction |
| RS763844532 | Health Risk | Likely pathogenic | Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome |
| RS765103846 | Health Risk | Likely pathogenic | Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome |
| RS1319907329 | Health Risk | Pathogenic | Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome |
| RS1269750663 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay with dysmorphic features, liver dysfunction, pruritus |