Hypotrichosis, HEPHL1-related
Phenotype Details
- Phene ID
- 4269
- Name
- Hypotrichosis, HEPHL1-related
- Phene Name
- N/A
- OMIA ID
- 2230
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2012
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 296 | Hypotrichosis | 170253367 | 1 | 29 | NC_037356.1:g.721234T>A | NM_001192511.2:c.1684A>T | NP_001179440.1:p.(K562*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belted Galloway (Cattle) | 853 | 9913 | http://purl.obolibrary.org/obo/VBO_0000142 |
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
Molecular Genetics
In a conference abstract, Marron and Beever (2012) reported the causal mutation of hypotrichosis in Belted Galloway cattle to be "an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X)". They further noted that "Hephaestin-like 1 is responsible for copper ion transport. Copper deficiency has been shown to cause anemia, poor immune function, slower growth rates and discolored or poor hair coats in cattle." A full account of the discovery by Kuca et al. (2021) included details of the likely causal variant, namely chr29: g.721234A>T; c.1684A>T; p.Lys562*.