NRG1 Chromosome 8
Neuregulin 1
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What This Gene Does
The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"I-set domain containing|Neuregulins"
Locus Type
gene with protein product
Location
8p12
Ensembl
ENSG00000157168
Associated Conditions (1)
Hereditary spastic paraplegia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777137810 | Trait | Affects | Hereditary spastic paraplegia, Hereditary spastic paraplegia |