Gene: [07q1123/LIMK1] LIM domain kinase 1; LIM motif-containing protein kinase 1; Williams-Beuren syndrome (WS; WBS; MIM:194050);


PAT

Tassabehji-1996 found that the LIMK1 gene is deleted in Williams-Beuren syndrome."

REL

GEM:22q12/LIMK2.

REF

LOC "Mao X &: CCG, 74, 190-191, 1996
CLO,SEQ "Mizuno K &: Oncogene, 9, 1605-1612, 1994
LOC,MUT "Tassabehji M &: Nature Genet, 13, 272-273, 1996

SWI

SWISSPROT: P53667

KEY

pep

CLA

coding, basic

LOC

07 q11.23

MIM

MIM: 601329

EZN

ENZYME: 2.7.1.?

Смотрите также:

  • Gene: [07q1123/ELN] elastin (tropoelastin); supravalvular aortic stenosis (SVAS); Williams-Beuren syndrome (WS; WBS; MIM:194050); hypercalcemia, infantile (with elfin facies); [SVAS WS WBS ]
  • Gene: [09p13/TESK1] testis-specific protein kinase 1;