1. Gene
  2. LRAT - lecithin retinol acyltransferase Gene

LRAT - lecithin retinol acyltransferase Gene

Homo sapiens

Also known as LCA14

Gene ID: 9227 | Gene type: protein coding

About LRAT

Cytogenetic location: 4q32.1 Genomic coordinates (GRCh38): 4:154,740,838-154,753,120 (from NCBI)

This gene has 8 transcripts (splice variants), 194 orthologues, 7 paralogues and is associated with 7 phenotypes. Biased expression in duodenum (RPKM 4.0), small intestine (RPKM 3.3) and 6 other tissues.

Summary

The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

LRAT Products(2)

mRNA Protein Name
NM_001301645.2 NP_001288574.1 lecithin retinol acyltransferase precursor
NM_004744.5 NP_004735.2 lecithin retinol acyltransferase precursor

LRAT Protein Structure

LRAT

LRAT: Lecithin retinol acyltransferase (41 - 173)

  • 0
  • 100
  • 200
  • 230 a.a.
Protein Preferred Names Protein Names

lecithin retinol acyltransferase

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

Related Diseases

Diseases Alias
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

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

Severe Early-Childhood-Onset Retinal Dystrophy

Eosrd

Early-Onset Severe Retinal Dystrophy

Secord

Retinal Dystrophy, Early Onset Severe

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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

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

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

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

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome

Spear Syndrome

Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

Microphthalmia, Isolated, With Coloboma 8

MCOPS9

Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

Pdac

Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

Pmd

Syndromic Microphthalmia 9

Anophthalmia-Pulmonary Hypoplasia Syndrome

Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

Microphthalmia Syndromic 9

Matthew Wood Syndrome

Pdac Syndrome

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

Microphthalmia, Isolated, With Coloboma, 8

MCOPCB8

Isolated Colobomatous Microphthalmia 8

Microphthalmia, Syndromic, 9

Anophthalmia With Pulmonary Hypoplasia

Microphthalmia Syndromic, Type 9

Anophthalmia And Pulmonary Hypoplasia

Bothnia Retinal Dystrophy

Vasterbotten Dystrophy

BRD

Dystrophy, Retinal, Bothnia

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Night Blindness

Nyctalopia

Newfoundland Rod-Cone Dystrophy

Newfoundland Cone-Rod Dystrophy

NFRCD

Rod-Cone Dystrophy Newfoundland

Keratomalacia

Vitamin A Deficiency

Night Blindness

Retinol Deficiency

Xerotic Keratitis

VAD

Vitamin A

Hypovitaminosis A

Bitot Spots

Bitot Spots In The Young Child

Conjunctival Xerosis With Bitot'S Spots

Vitamin A Deficiency With Cornea Xerosis

Vitamin A Deficiency With Cornea Ulceration Or Xerosis

Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa

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 4

LCA4

Retinitis Pigmentosa, Juvenile

Cone-Rod Dystrophy

Leber Congenital Amaurosis, Type 4

Retinitis Pigmentosa

Leber Congenital Amaurosis 6

LCA6

Leber Congenital Amaurosis, Type 6

Leber Congenital Amaurosis 8

LCA8

Leber Congenital Amaurosis, Type 8

Hypervitaminosis A

Hypervitaminosis A, Susceptibility To

Hyperalimentation Of Vitamin A

Leber Congenital Amaurosis 9

LCA9

Leber Congenital Amaurosis, Type 9

Leber Congenital Amaurosis 13

LCA13

Retinitis Pigmentosa 53

RP53

Leber Congenital Amaurosis, Type 13

Retinal Degeneration

Degeneration Of Retina

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Microcephaly And Chorioretinopathy 2
Syndromic Microphthalmia

Microphthalmia, Syndromic

Alzheimer'S Disease 1

Alzheimer Disease Type 1

Alzheimer'S Disease 1, Early Onset

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

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

Eye Degenerative Disease
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina

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

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta LRAT VGNC VGNC:107049
Bos taurus LRAT VGNC VGNC:49555
Mus musculus LRAT MGD MGI:1891259
Rattus norvegicus LRAT RGD RGD:68362
Felis catus LRAT VGNC VGNC:68085
Canis familiaris LRAT VGNC VGNC:49606
Others LRAT NCBI