Gene: [04q1/AIH2] amelogenesis imperfecta 2, hypocalcification (autosomal dominant);


COM

[1] Linkage to the long arm of chromosome 4 has been established in three families with autosomal dominant amelogenesis imperfecta (Forsman-1994; Karrman-1997).
[2] Candidate genes for autosomal dominant amelogenesis imperfecta include albumin (GEM:04q1/ALB) and ameloblastin (GEM:04q21/AMBN) but the involvement of these genes in the disease has yet to be demonstrated."

HET

The genetic hetetogeneity in amelogenesis imperfecta was shown with one autosomal locus (GEM:04q1/AIH2) and two X-linked ones (GEM:0Xp22/AMELX; GEM:0Xq2/AIH3)."

REF

PAT,LOC,LIN "Forsman K &: Hum Mol Genet, 3, 1621-1625, 1994
PAT,LOC,LIN "Karrman C &: Genomics, 39, 164-170, 1997
CLO,LOC "MacDougall M &: Genomics, 41, N1, 115-118, 1997

KEY

devd, bone, exce

CLA

unknown, basic

LOC

04 q11-13

MIM

MIM: 104500