Gene: [15q211/FBN1] fibrillin 1 (Marfan syndrome); Marfan syndrome 1 (MIM:154700); [FBN MFS1 MFS ]


FAG

The following fibrillin genes are mapped in human genome: FBN1, GEM:05q/FBN2; GEM:02p16/FBNL."

REL

GEM:03p2/MFS2.

HIS

This gene was originally mapped as Marfan syndrome locus (provisionally; MIM:154700) on the basis of the linkage with anonymous DNA markers of Chr 15 (D15S45; LOD score = 3.32 at theta of 0). The Committee on the Genetic Constitution of Chromosome 15 believes that MFS1 regional localization may be indicated more precisely: 15q15-22 (Donlon-1990)."

REF

LIN,LOC,CLO "Black CM &: Hum Mol Genet, 3, 1442, 1994
LIN,LOC,CLO "Clark BA &: NAR, 19, 4309, 1991
LIN,LOC,CLO "Dietz HC &: Genomics, 9, 355-361, 1991a
LIN,LOC,CLO "Dietz HC &: Nature, 352, 337-339, 1991b
HIS,LIN "Donlon TA, Malkolm: CCG, 55, (HGM10.5), 189-193, 1990
LIN,LOC,CLO "Hewett DR &: J Med Genet, 31, 338-339, 1994
LIN,LOC,CLO "Kainulainen K &: AJHG, 49, 662-667, 1991
LIN,LOC,CLO "Kainulainen K &: New Engl J Med, 323, 935-939, 1990
LIN,LOC,CLO "Lee B &: Nature, 352, 330-334, 1991
LIN,LOC,CLO "Maslen CL &: Nature, 352, 334-337, 1991
LIN,LOC,CLO "Tsipouras P &: PNAS, 88, 4486-4488, 1991

SWI

SWISSPROT: P35555

KEY

neu, ont, devd, bone, card

CLA

coding, basic

LOC

15 q21.1

MIM

MIM: 134797

SYN

FBN MFS1 MFS

Смотрите также:

  • Ген фибриллина
  • Gene: [02^/LTBP1] latent transforming growth factor beta binding protein 1;
  • Gene: [11q12/LTBP3] latent transforming growth factor beta binding protein 3;
  • HUGEN-фибриллин