Gene: [0Xq22/COL4A6] collagen, type IV, alpha 6; diffuse esophageal leiomyomatosis with Alport syndrome (MIM:308940);


COM

A COL4A6 gene is located on the Chr 0Xq22 in a head-to-head arrangement and within 452 bp of the COL4A5 gene (GEM:0Xq22/COL4A5; Zhou-1993)."

REF

MUT "Heidet L &: Hum Mol Genet, 4, 99-108, 1995
CLO,SEQ,GEN "Oohashi T &: JBC, 270, 26863-26867, 1995
CLO,SEQ,STR "Oohashi T &: JBC, 269, 7520-7526, 1994
CLO,SEQ,GEN "Zhang X &: Genomics, 33, 473-479, 1996
CLO,SEQ,GEN "Zhou J &: JBC, 269, 13193-13199, 1994
CLO,SEQ,LOC,MUT "Zhou J &: Science, 261, 1167-1169, 1993

KEY

exce, ren, devd

CLA

coding, basic

LOC

0X q22

MIM

MIM: 303631