Gene Locus : human-ABHD12
Mode of mutation : Natural mutant
Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.985del p.(His329Thrfs*57)
| Title : Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes - Romero-Vazquez_2026_Int.J.Mol.Sci_27_7506 |
| Author(s) : Romero-Vazquez S , Mejecase C , Rodriguez-Martinez AC , Cronbach N , Moosajee M |
| Ref : Int J Mol Sci , 27 : , 2026 |
| Abstract : |
| PubMedSearch : Romero-Vazquez_2026_Int.J.Mol.Sci_27_7506 |
| PubMedID: 42653504 |
| Gene_locus related to this paper: human-ABHD12B , human-ABHD12 |