NEUROG1 neurogenin 1
Gene ID: 4762, updated on 4-Jan-2025Gene type: protein coding
Also known as: AKA; ngn1; CCDDRD; Math4C; bHLHa6; NEUROD3
- See all available tests in GTR for this gene
- Go to complete Gene record for NEUROG1
- Go to Variation Viewer for NEUROG1 variants
Summary
Enables E-box binding activity and protein homodimerization activity. Involved in several processes, including cochlea morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | not available |
Genomic context
- Location:
- 5q31.1
- Sequence:
- Chromosome: 5; NC_000005.10 (135534282..135535964, complement)
- Total number of exons:
- 1
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for NEUROG1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.