NEK1 NIMA related kinase 1
Gene ID: 4750, updated on 17-Jun-2024Gene type: protein coding
Also known as: OFD2; ALS24; SRPS2; SRTD6; SRPS2A; NY-REN-55
- See all available tests in GTR for this gene
- Go to complete Gene record for NEK1
- Go to Variation Viewer for NEK1 variants
Summary
The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis, susceptibility to, 24 | See labs |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Mohr syndrome | not available |
| Short-rib thoracic dysplasia 6 with or without polydactyly | See labs |
Genomic context
- Location:
- 4q33
- Sequence:
- Chromosome: 4; NC_000004.12 (169392809..169612583, complement)
- Total number of exons:
- 38
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NEK1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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