LCA5 - lebercilin LCA5 Gene

Homo sapiens

Also known as C6orf152

Gene ID: 167691 | Gene type: protein coding

About LCA5

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:79,484,991-79,538,782 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 5.0), thyroid (RPKM 4.0) and 25 other tissues.

Summary

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

LCA5 Products(2)

mRNA	Protein	Name
NM_001122769.3	NP_001116241.1	lebercilin
NM_181714.4	NP_859065.2	lebercilin

LCA5 Protein Structure

Lebercilin

0
200
400
600
697 a.a.

Protein Preferred Names

Protein Names

lebercilin

LCA5, lebercilin

Related Diseases

Diseases

Alias

Leber Congenital Amaurosis 5

LCA5	Leber Congenital Amaurosis, Type 5

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

Severe Early-Childhood-Onset Retinal Dystrophy

Eosrd	Early-Onset Severe Retinal Dystrophy
Secord	Retinal Dystrophy, Early Onset Severe

Leber Congenital Amaurosis 1

LCA1	Amaurosis Congenita Of Leber I
Lca	Retinal Blindness, Congenital
Crb	Leber Congenital Amaurosis Type I
Leber Congenital Amaurosis, Type 1	Amaurosis Congenita Of Leber, Type 1

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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

Leber Congenital Amaurosis 3

LCA3	Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive
Leber Congenital Amaurosis, Type 3	Leber Congenital Amaurosis Type 3

Leber Congenital Amaurosis 9

LCA9	Leber Congenital Amaurosis, Type 9

Leber Congenital Amaurosis 8

LCA8	Leber Congenital Amaurosis, Type 8

Leber Congenital Amaurosis 2

LCA2	Amaurosis Congenita Of Leber Ii
Amaurosis Congenita Of Leber, Type 2	Leber Congenital Amaurosis Type Ii
Leber Congenital Amaurosis, Type 2	Leber Congenital Amaurosis, Type Ii

Leber Congenital Amaurosis 11

LCA11

Leber Congenital Amaurosis, Type 11

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis	Shilca Syndrome
SHILCA	Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome

Leber Congenital Amaurosis 15

LCA15

Leber Congenital Amaurosis, Type 15

Leber Congenital Amaurosis 7

LCA7	Leber Congenital Amaurosis, Type 7

Simpson-Golabi-Behmel Syndrome, Type 2

Simpson-Golabi-Behmel Syndrome Type 2	SGBS2
Simpson-Golabi-Behmel Syndrome 2

Leber Congenital Amaurosis 6

LCA6	Leber Congenital Amaurosis, Type 6

Meckel Syndrome, Type 8

Meckel Syndrome 8	MKS8
Meckel-Gruber Syndrome, Type 8

Leber Congenital Amaurosis 4

LCA4	Retinitis Pigmentosa, Juvenile
Cone-Rod Dystrophy	Leber Congenital Amaurosis, Type 4
Retinitis Pigmentosa

Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10

Refractive Amblyopia

Ametropic Amblyopia

Leber Congenital Amaurosis 14

LCA14	Retinitis Pigmentosa, Juvenile, Lrat-Related
Retinal Dystrophy, Early-Onset Severe	Retinitis Pigmentosa, Juvenile
Retinitis Pigmentosa Juvenile Lrat-Related	Severe Early-Onset Retinal Dystrophy Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related	Leber Congenital Amaurosis, Type 14

Retinitis Pigmentosa 28

RP28	Retinitis Pigmentosa, Type 28

Leber Congenital Amaurosis 13

LCA13	Retinitis Pigmentosa 53
RP53	Leber Congenital Amaurosis, Type 13

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12

Leber Congenital Amaurosis 16

LCA16

Leber Congenital Amaurosis, Type 16

Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Cone-Rod Dystrophy 18

CORD18

Dystrophy, Cone-Rod, Type 18

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Retinitis Pigmentosa 54

RP54	Retinitis Pigmentosa, Type 54

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64	Retinal Dystrophy With Early Macular Involvement
CORD16	RP64

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Achromatopsia

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

Congenital Stationary Night Blindness

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

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

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-RS07548	LCA5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LCA5	RGD	RGD:1308555
Felis catus	LCA5	VGNC	VGNC:63203
Canis familiaris	LCA5	VGNC	VGNC:42605
Bos taurus	LCA5	VGNC	VGNC:30807
Mus musculus	LCA5	MGD	MGI:1923032
Macaca mulatta	LCA5	VGNC	VGNC:74172