Gene: [01q2/GJA8] gap junction protein, alpha 8, 50kD (connexin 50); lens intrinsic membrane protein MP70; cataract, zonular pulverulent 1 (FY-linked; MIM:116200); [CX50 MP70 ]


REL

GEM:00.0/CZP2; GEM:13q/CZP3.

REF

CLO,GEN,LOC "Church RL &: Curr Eye Res, 14, 215-221, 1995
LOC,LIN "Conneally &: CCG, 22, 295-297, 1978
LIN,LOC "Cook PJ &: CCG, 25, 9-20, 1979
LOC,LIN "Renwick, Lawler: Ann Hum Genet, 27, 67-84, 1963
HET "Scott MH &: Ophthalmology, 101, 866-871, 1994
MUT "Shiels A &: AJHG, 61, A21-21, 1997

KEY

mem, eye

CLA

coding, basic

LOC

01 q2

MIM

MIM: 600897

SYN

CX50 MP70

Смотрите также:

  • Gene: [16q221/CTM] cataract, Marner (perinuclear; zonular; lamellar); [CAM ]
  • Gene: [06q2/GJA1] gap junction protein, alpha 1, 43kD (connexin 43), cardiac; visceroatrial heterotaxia, autosomal recessive; [CX43 ]