NRCAM Chromosome 7
Neuronal cell adhesion molecule
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What This Gene Does
Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
7q31.1
Ensembl
ENSG00000091129
Associated Conditions (2)
NRCAM-related disorder
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
Key Variants
RS2153741176
Conflicting classifications of pathogenicity
NRCAM-related disorder, NRCAM-related disorder
Health Risk
RS2548032920
Likely pathogenic
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
Health Risk
RS575851831
Likely pathogenic
NRCAM-related disorder, NRCAM-related disorder
Health Risk
RS1298979445
Pathogenic
NRCAM-related disorder, NRCAM-related disorder
Health Risk
RS140770274
Pathogenic
NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder
Health Risk
RS1413634373
Pathogenic
NRCAM-related disorder, NRCAM-related disorder
Health Risk
RS201033539
Pathogenic
NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder
Health Risk
RS2062777274
Pathogenic
NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder
Health Risk
RS2153275538
Pathogenic
NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder
Health Risk
RS2153369022
Pathogenic
NRCAM-related disorder, NRCAM-related disorder
Health Risk
RS772993703
Pathogenic
NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2153741176 | Health Risk | Conflicting classifications of pathogenicity | NRCAM-related disorder, NRCAM-related disorder |
| RS2548032920 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities |
| RS575851831 | Health Risk | Likely pathogenic | NRCAM-related disorder, NRCAM-related disorder |
| RS1298979445 | Health Risk | Pathogenic | NRCAM-related disorder, NRCAM-related disorder |
| RS140770274 | Health Risk | Pathogenic | NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder |
| RS1413634373 | Health Risk | Pathogenic | NRCAM-related disorder, NRCAM-related disorder |
| RS201033539 | Health Risk | Pathogenic | NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder |
| RS2062777274 | Health Risk | Pathogenic | NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder |
| RS2153275538 | Health Risk | Pathogenic | NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder |
| RS2153369022 | Health Risk | Pathogenic | NRCAM-related disorder, NRCAM-related disorder |
| RS772993703 | Health Risk | Pathogenic | NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder |