Monday, 2 December 2013

Some important gene involvement

Some important gene involvement

GNAS -1 protein:: Mc cune albright syndrome
LMX1B gene:: Nail patella syndrome
FGFR3 gene:: achondroplasia
TXB5 gene:: Holt oram syndrome
LAMP2::  Cardiac Danon disease
RECQL4 helicase gene:: Rothmund-Thomson syndrome
GLUT2:: fanconi Becker syndrome
MECP 2 gene:: RETT syndrome
ABCA1 gene:: tangier disease
ABCD1 gene:: adrenoleukodystrophy
ZIP-4 protien:: Acrodermatitis enteropathica
MYOC & Optineurin gene:: glucoma
BP180 &  BP230:: bullous pemphigoid
STK11 gene:: Peutz-Jeghers syndrome

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