Gene: [0Xp211/RP3] retinitis pigmentosa GTPase regulator; retinitis pigmentosa 3 (X-linked recessive); [ETX1 ]


COM

Dry-1995 isolated a candidate RP3 gene encoding a 2.2-kb transcript and called by them ETX1."

REF

LOC,LIN,MOL "Chen &: Clin Genet, 35, 338-342, 1989
LOC,LIN,MOL "Dahl N &: Clin Genet, 40, 435-440, 1991
CLO,SEQ "Dry KL &: Hum Mol Genet, 4, 2347-2353, 1995
LOC,LIN,MOL "Fujita R &: AJHG, 59, 152-158, 1996
LOC,LIN,MOL "Keith CG &: Ophthalmic Paediat Genet, 12, 91-98, 1991
LOC,LIN,MOL "Musarella MA &: Genomics, 8, 286-296, 1990
LOC,LIN,MOL "Musarella MA &: Genomics, 4, 601-605, 1989
LOC,LIN,MOL "Musarella MA &: AJHG, 43, 484-494, 1988
LOC,LIN,MOL "Wirth B &: Genomics, 2, 263-266, 1988

SWI

SWISSPROT: Q92834

KEY

eye

CLA

coding, basic

LOC

0X p21.1

MIM

MIM: 312610

SYN

ETX1

Смотрите также:

  • Gene: [03q2/RHO] rhodopsin (visual pigment apoprotein); retinitis pigmentosa 4, (autosomal dominant; rhodopsin-related); congenital stationary night blindness 4; [RP4 RP5 CSNB4 ]
  • Gene: [08^/RP1] retinitis pigmentosa 1 (autosomal dominant);
  • Gene: [0Xp211/SRPX] sushi-repeat-containing protein, X chromosome;