Gene Locus : human-LIPH
Mode of mutation : Natural mutant
Disease : Hypotrichosis
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.460_461AG>GA\; p.S154D\; p.Ser154Asp. Compound hterozygote with c.742C>A (p.His248Asn)
| Title : Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family - |
| Author(s) : Hayashi R , Akasaka T , Ito M , Shimomura Y |
| Ref : J Dermatol , 41 :937 , 2014 |
| PubMedID: 25201209 |