Hypotrichosis, KRT71-related
Phenotype Details
- Phene ID
- 4039
- Name
- Hypotrichosis, KRT71-related
- Phene Name
- N/A
- OMIA ID
- 2114
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2010
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1337 | Hypotrichosis, KRT71-related | 388273649 | 1 | 5 | NC_037332.1:g.27331221_27331228del | NM_001075970.1:c.281_288del | NP_001069438.1:p.(M94Nfs*14) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Hereford (Cattle) | 17 | 9913 | http://purl.obolibrary.org/obo/VBO_0000232 |
Molecular Genetics
Jacinto et al. (2021): "Protein-coding exons of six positional candidate genes with known hair or hair follicle function were re-sequenced. This revealed a protein-changing variant in the KRT71 gene that encodes a type II keratin specifically expressed in the IRS of the hair follicle (c.281delTGTGCCCA; p.Met94AsnfsX14)." This variant was previously reported by Markey et al. (2010).