Entity Details
| Primary name |
HYLS1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96M11 |
| EntryName | HYLS1_HUMAN |
| FullName | Hydrolethalus syndrome protein 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 299 |
| SequenceStatus | complete |
| DateCreated | 2007-05-01 |
| DateModified | 2021-04-07 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR026227 | Hydrolethalus syndrome protein 1 | Family | Family |
| IPR027918 | Hydrolethalus syndrome protein 1, C-terminal domain | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 236680 | OMIM | Hydrolethalus syndrome 1 (HLS1) | A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions