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GUCY2D

  • GUCY2D
  • Protein-coding gene in the species Homo sapiens

    guanylate cyclase 2D, retinal is an enzyme that in humans is encoded by the GUCY2D (guanylate cyclase 2D) gene. This gene encodes a retina-specific guanylate

    GUCY2D

    GUCY2D

    GUCY2D

  • Cone dystrophy
  • Degeneration of cone cells in the eye

    caused by mutations in the guanylate cyclase 2D (not geometrical) gene (GUCY2D) on chromosome 17.[citation needed] There is a difference between the much

    Cone dystrophy

    Cone dystrophy

    Cone_dystrophy

  • Sense of smell
  • Sense that detects smells

    subpopulations, such as those that express the receptor guanylyl cyclase GC-D (Gucy2d) or the soluble guanylyl cyclase Gucy1b2, use a cGMP cascade to transduce

    Sense of smell

    Sense of smell

    Sense_of_smell

  • Leber congenital amaurosis
  • Rare inherited eye disease

    GDF6, and PRPH2 in the formation of retinal photoreceptor cells; AIPL1 and GUCY2D in phototransduction (converting light into electrical signals for the brain);

    Leber congenital amaurosis

    Leber_congenital_amaurosis

  • Ciliopathy
  • Genetic disease resulting in abnormal formation or function of cilia

    TCTN2, TMEM67, TMEM138, TMEM216, TMEM237 Leber congenital amaurosis 204000 GUCY2D, RPE65 McKusick–Kaufman syndrome 236700 MKKS Meckel–Gruber syndrome 249000

    Ciliopathy

    Ciliopathy

    Ciliopathy

  • Guanylate cyclase-coupled receptor
  • Protein family

    natriuretic factor (ANF). GC-C (GUCY2C): for guanylin and uroguanylin. GC-D (GUCY2D) GC-E (GUCY2E) GC-F (GUCY2F) There is also a human pseudogene for GUCY2GP

    Guanylate cyclase-coupled receptor

    Guanylate_cyclase-coupled_receptor

  • List of human protein-coding genes 4
  • P33402 6765 GUCY1B1 HGNC:4687; Q02153 6766 GUCY2C HGNC:4688; P25092 6767 GUCY2D HGNC:4689; Q02846 6768 GUCY2F HGNC:4691; P51841 6769 GUF1 HGNC:25799; Q8N442

    List of human protein-coding genes 4

    List_of_human_protein-coding_genes_4

  • Protein kinase domain
  • Protein domain

    GRK2 ; GRK3 ; GRK4 ; GRK5 ; GRK6 ; GRK7 ; GSG2 ; GSK3A ; GSK3B ; GUCY2C ; GUCY2D ; GUCY2F ; HCK ; HIPK1 ; HIPK2 ; HIPK3 ; HIPK4 ; HUNK ; ICK ; IGF1R ; IKBKB ;

    Protein kinase domain

    Protein kinase domain

    Protein_kinase_domain

  • CRB1
  • Protein-coding gene in humans

    Schooneveld MJ, et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa"

    CRB1

    CRB1

    CRB1

  • RPGRIP1
  • Protein-coding gene in the species Homo sapiens

    Bergen AA (November 2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa"

    RPGRIP1

    RPGRIP1

    RPGRIP1

  • List of OMIM disorder codes
  • ABCA4 Cone–rod dystrophy 5; 600977; PITPNM3 Cone–rod dystrophy; 601777; GUCY2D Cone–rod dystrophy 7; 603649; RIMS1 Cone–rod dystrophy 9; 612775; ADAM9

    List of OMIM disorder codes

    List_of_OMIM_disorder_codes

  • AIPL1
  • Protein-coding gene in the species Homo sapiens

    PT, Bergen AA (2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa"

    AIPL1

    AIPL1

    AIPL1

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