Gene: [02q3/CHRND] cholinergic receptor, nicotinic, delta polypeptide (muscle); [ACHRD ]

ASS

It is known that in autoimmune disease, myasthenia gravis (MG), antibodies against cholinergic receptors are found, the number of receptors decreasing gradually with the progression of the pathology. The MIM Catalogue describes different MG forms under the numbers MIM:254200 (the secondary marker) and MIM:254210. The gene that accounts for the liability to MG is most probably linked to MHC complex in chromosome 6p (as is the case for a number of other autoimmune diseases, the general liamility to which is described under MIM 109100)."

FAG

See GEM:02q32/CHRNA1.

REF

PRO,LOC,MOL,FAG "Beeson &: CCG, 51, (HGM10), 960, 1989
EAG,MAP "Heidmann O &: Science, 234, 866-888, 1986
PRO,LOC,PAG "Lobos EA &: AJHG, 44, 522-533, 1989

SWI

SWISSPROT: Q07001

KEY

neu, myo, mem, recp

CLA

coding, basic

LOC

02 q36-37

MIM

MIM: 100720

SYN

ACHRD