Gene: [06p/CBFA1] core-binding factor, runt domain, alpha subunit 1; cleidocranial dysplasia 1 (MIM:119600); [AML3 PEBP2A1 ]


COM

 Zhang-1997 assigned the CBFA1 gene to Chr 6p21.1-12.3 by fluorescence in situ hybridization."

FUN

 CBFA1 plays an essential role in osteogenesis (Komori-1997; Rodan-1997) In mice, Cbfa1 encodes a protein that binds to an osteoblast-specific cis-acting element, termed OSE2, in the promoter of osteocalcin (GEM:01q/BGLAP). The Cbfa1 is an osteoblast-specific transcription factor and a regulator of osteoblast differentiation (Ducy-1997)."

FAG

 Rodan and Harada (Rodan-1997) gave a comprehensive review of the role of the 3 CBFA genes (GEM:21q223/CBFA2; GEM:01p36/CBFA3) and specifically the role of CBFA1 in normal and abnormal bone development. They pointed out that a difference between the heterozygous CBFA mutations in the human and in mice is the supernumerary teeth in humans, the basis of which remains to be determined."

REL

 GEM:08q22/CBFA2T1; GEM:16q221/CBFB.

REF

 PAT,LIN,LOC "Feldman GJ &: AJHG, 56, 938-943, 1995
PAT,LIN,LOC "Gelb BD &: Am J Med Genet, 58, 200-205, 1995
FUN,EXP "Komori T &: Cell, 89, N5, 755-764, 1997
MUT "Lee B &: Nature Genet, 16, N3, 307-310, 1997
COD,SEQ,EXP,LOC,FAG "Levanon D &: Genomics, 23, 425-432, 1994
PAT,MUT "Mundlos S &: Cell, 89, N5, 773-779, 1997
PAT,LIN,LOC "Mundlos S &: Hum Mol Genet, 4, 71-75, 1995
PAT,LIN,LOC "Narahara K &: Am J Med Genet, 56, N1, 119-120, 1995
PAT,LIN,LOC "Nienhaus H &: Am J Med Genet, 46, 630-631, 1993
FUN,PAT,EXP "Otto F &: Cell, 89, 765-771, 1997
PAT,LIN,LOC "Ramesar RS &: J Med Genet, 33, N6, 511-514, 1996
REV,FUN,EXP "Rodan GA, Harada S: Cell, 89, N5, 677-680, 1997
LOC "Zhang Y-W &: Oncogene, 15, 367-371, 1997

KEY

 bone, devd, ont, trc

CLA

 coding, basic

LOC

 06 p21.1-12.3

MIM

 MIM: 600211

SYN

 AML3 PEBP2A1