Gene: [06p213/TULP1] tubby like protein 1; retinitis pigmentosa 14 (autosomal recessive; MIM:600132); [RP14 ]


COM

North-1997 demonstrated by fluorescence in situ hybridization that the TULP1 gene is located within Chr 6p21.3."

REL

GEM:19q131/TULP2.

REF

CLO,MUT,PAT "Banerjee P &: Nature Genet, 18, N2, 177-179, 1998
MUT,PAT "Hagstrom SA &: Nature Genet, 18, N2, 174-176, 1998
PAT,LIN,LOC "Knowles JA &: Hum Mol Genet, 3, 1401-1403, 1994
COD,FAG "North MA &: PNAS, 94, N7, 3128-3133, 1997
PAT,LIN,LOC "Subbaraya I &: JBC, 269, 31080-31089, 1994

KEY

eye

CLA

coding, basic

LOC

06 p21.3

MIM

MIM: 602280

SYN

RP14

Смотрите также:

  • Gene: [08^/RP1] retinitis pigmentosa 1 (autosomal dominant);
  • Gene: [00.0/TUB] tubby (mouse) homolog;