Entrez Gene ID | 7802 |
---|---|
Official Gene Symbol | DNALI1 (GeneCards) |
Full name | dynein axonemal light intermediate chain 1 |
Location | 1p34.3 |
Other ids | Vega : OTTHUMG00000004222 MIM : 602135 HGNC : HGNC:14353 Ensembl : ENSG00000163879 |
Other names | P28, hp28, dJ423B22.5 |
Summary | This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
29707 | 7802 | DNALI1 | 1 | 38023331 | 38023331 | Autism Spectrum Disorders | NextSeq500 |
30000 | 7802 | DNALI1 | 1 | 38023331 | 38023331 | Autism Spectrum Disorders | NextSeq500 PASM |