DYNC1H1 dynein cytoplasmic 1 heavy chain 1
Gene ID: 1778, updated on 16-Apr-2024Gene type: protein coding
Also known as: p22; DHC1; DNCL; DYHC; HL-3; CMT2O; DHC1a; DNCH1; DNECL; Dnchc1; CDCBM13; SMALED1
- See all available tests in GTR for this gene
- Go to complete Gene record for DYNC1H1
- Go to Variation Viewer for DYNC1H1 variants
Summary
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | See labs |
| Charcot-Marie-Tooth disease axonal type 2O | See labs |
| Intellectual disability, autosomal dominant 13 | See labs |
| Loci at chromosomes 13, 19 and 20 influence age at natural menopause. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2023-11-14) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2023-11-14) ClinGen Genome Curation Page |
Genomic context
- Location:
- 14q32.31
- Sequence:
- Chromosome: 14; NC_000014.9 (101964573..102056443)
- Total number of exons:
- 78
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DYNC1H1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/DYNC1H1 genetic mutations
- 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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