PDE6H - phosphodiesterase 6H Gene

Homo sapiens

Also known as RCD3; ACHM6

Gene ID: 5149 | Gene type: protein coding

About PDE6H

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:14,973,042-14,981,865 (from NCBI)

This gene has 1 transcript (splice variant), 249 orthologues, 1 paralogue and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

PDE6H Products(1)

mRNA	Protein	Name
NM_006205.3	NP_006196.1	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

PDE6H Protein Structure

PDE6_gamma

0
83 a.a.

Protein Preferred Names

Protein Names

retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

GMP-PDE gamma

Related Diseases

Diseases

Alias

Retinal Cone Dystrophy 3a

Achromatopsia 6	RCD3A
Retinal Cone Dystrophy 3	Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Pde6h-Related
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Pde6h-Related	Cone Dystrophy, Retinal 3a
Cone Dystrophy With Night Blindness And Supernormal Rod Responses	Cone Dystrophy With Supernormal Rod Electroretinogram
Dystrophy, Retinal Cone, Type 3a

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Epidemic Pleurodynia

Bornholm Disease	Epidemic Myalgia
Pleurodynia, Epidemic	Devil'S Grip
Bamble Disease	Epidemic Pleurisy
Epidemic, Myositis	Dabney'S Grip
Epidemic Benign Dry Pleurisy	Epidemic Cervical Myalgia

Achromatopsia 4

ACHM4

Achromatopsia, Type 4

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Achromatopsia 2

ACHM2	Rod Monochromatism 2
Rod Monochromacy 2	Rmch2
Colorblindness, Total	Complete Achromatopsia
Total Colorblindness	Achromatopsia-2
Achromatopsia, Type 2	Color Blindness
Achromatopsia

Achromatopsia 3

ACHM3	Pingelapese Blindness
Total Colorblindness With Myopia	Achromatopsia With Myopia
Achm1	Rmch1
Rod Monochromacy 1	Rod Monochromatism 1
Achm1, Formerly	Rod Monochromatism 1, Formerly
Rod Monochromacy 1, Formerly	Rmch1, Formerly
Achromatopsia-3	Achromatopsia, Type 3

Tritanopia

Blue Color Blindness	Colorblindness, Tritan
Blue Colorblindness	CBT
Colorblindness, Tritanopic	Tritan Defect
Blue Colour Blindness	Congenital Tritanopia
Tritan Colour Blindness	Tritan Color Blindness
Color Vision Defects	Color Blindness, Blue
Color Vision Defect	Color Blindness

Acatalasemia

Acatalasia	Catalase Deficiency
Deficiency Of Catalase	ACATLAS
Takahara'S Disease	Takahara Disease

Orbit Lymphoma

Orbital Lymphoma

Lymphoma Of The Orbit

Color Blindness

Color Vision Defect	Blindness Color
Colour Blindness	Colour Vision Deficiency
Color Vision Deficiency	Color Vision Defects
Defective Color Vision	Vision Defect, Color
Color-Vision Disease	Dyschromatopsia

Red-Green Color Blindness

Deutan Defect	Deuteranopia
Reduced Red-Green Discrimination	Color Blindness, Red-Green
Colorblindness, Partial, Deutan Series

Cone-Rod Dystrophy 11

CORD11

Dystrophy, Cone-Rod, Type 11

Night Blindness, Congenital Stationary, Autosomal Dominant 2

Congenital Stationary Night Blindness Autosomal Dominant 2	CSNBAD2
Hemeralopia	Night Blindness, Congenital Stationary, Rambusch Type
Rambusch Type Congenital Stationary Night Blindness	Congenital Stationary Night Blindness Rambusch Type
Hemeralopia Congenital Essential	Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2

Night Blindness

Nyctalopia

Blue Cone Monochromacy

Blue Cone Monochromatism	BCM
Cbbm	Color Blindness Blue Mono Cone Monochromatic Type
Cone Dystrophy 5, X-Linked	Colorblindness, Blue-Mono-Cone-Monochromatic Type
Achromatopsia Incomplete X-Linked	Incomplete Achromatopsia X-Linked
X-Chromosome-Linked Achromatopsia	X-Linked Achromatopsia Incomplete
Atypical X-Linked Achromatopsia	Color Blindness, Blue Monocone Monochromatic Type
S Cone Monochromacy	S Cone Monochromatism
X-Linked Incomplete Achromatopsia	Colorblindness Blue-Mono-Cone-Monochromatic Type
Cone Dystrophy 5	COD5
Cone Dystrophy 5 X-Linked	Monochromacy, Blue Cone
Cone Monochromatism	Achromatopsia Incomplete, X-Linked

Cycloplegia

Ciliary Muscle Paresis	Cycloplegic Paralysis Of Accommodation
Paresis Of Accommodation	Visual Accommodation Paralysis
Accommodation Paralysis	Intrinsic Paralysis Of Eye Muscle
Cycloplegic

Cone-Rod Dystrophy 1

CORD1	Crd1
Cone-Rod Retinal Dystrophy-1	Retinitis Pigmentosa 1

Retinitis Pigmentosa 45

RP45	Retinitis Pigmentosa, Type 45

Colorblindness, Partial, Protan Series

Protanopia	Red Color Blindness
Protan Defect	CBP
Red Colorblindness	Colorblindness, Protan
Color Blindness, Red

Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Eye Accommodation Disease

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy	Ornithine Aminotransferase Deficiency
HOGA	Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
Oat Deficiency	Okt Deficiency
Hyperornithinemia	Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency	Gyrate Atrophy Of The Choroid And Retina
GACR	Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
Gyrate Atrophy Of The Retina	Ornithinemia With Gyrate Atrophy
Ornithinemia	Fuchs Atrophia Gyrata Chorioideae Et Retinae
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome	Gyrate Atrophy Of The Choroid And/Or Retina
Girate Atrophy Of The Retina	Ornithine Ketoacid Aminotransferase Deficiency
Atrophy, Gyrate, Of Choroid And Retina

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10237	PDE6H Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PDE6H	RGD	RGD:70933
Canis familiaris	PDE6H	VGNC	VGNC:44362
Bos taurus	PDE6H	VGNC	VGNC:32684
Mus musculus	PDE6H	MGD	MGI:1925850

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