Gene: [02p/AKE] acrokeratoelastoidosis (collagenous plaques of hands);


COM

The GDB as well as HGM catalogues do not include this marker. It was included to OMIM on the basis of data of FER:Greiner-1983 on the linkage of AKE with Chr 2p markers. One of these markers was afterwards mapped to Chr 18q. Thus, the assignment of AKE to Chr 2 is open to question."

LIN

The data of Greiner-1983 exist about the possible linkage of this gene with three markers, ACP1, IGKC, and JK, the former two being mapped to Chr 2p. However, more recently Kidd antigen complex (Jk) was mapped to Chr 18q (GEM:18q/SLC14A1)."

REF

HIS,PHE "Costa OG: Arch Derm Syph, 70, 228-231, 1954
HIS,PHE "Costa OG: Dermatologica, 107, 164-167, 1953
LOC,LIN,COM "Greiner J &: Hum Genet, 63, 222-227, 1983
REV "Stevens HP &: Arch Derm, 132, 640-651, 1996

KEY

derm

CLA

unknown, basic

LOC

02 p?

MIM

MIM: 101850