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  2. LIPA - lipase A, lysosomal acid type Gene

LIPA - lipase A, lysosomal acid type Gene

Homo sapiens

Also known as LAL; CESD

Gene ID: 3988 | Gene type: protein coding

About LIPA

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:89,213,572-89,251,775 (from NCBI)

This gene has 8 transcripts (splice variants), 279 orthologues, 5 paralogues and is associated with 4 phenotypes. Broad expression in spleen (RPKM 177.6), small intestine (RPKM 113.4) and 21 other tissues.

Summary

This gene encodes Lipase A, the lysosomal acid Lipase (also known as Cholesterol ester hydrolase). This Enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

LIPA Products(3)

mRNA Protein Name
NM_000235.4 NP_000226.2 lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor
NM_001127605.3 NP_001121077.1 lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor
NM_001288979.2 NP_001275908.1 lysosomal acid lipase/cholesteryl ester hydrolase isoform 2

LIPA Protein Structure

Abhydro_lipase

Abhydro_lipase: Partial alpha/beta-hydrolase lipase region (37 - 98)

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (113 - 388)

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  • 399 a.a.
Protein Preferred Names Protein Names

lysosomal acid lipase/cholesteryl ester hydrolase

acid cholesteryl ester hydrolase

Related Diseases

Diseases Alias
Lysosomal Acid Lipase Deficiency

Wolman Disease

Cholesteryl Ester Storage Disease

Lal Deficiency

Lipa Deficiency

Cholesterol Ester Storage Disease

CESD

Cholesterol Ester Hydrolase Deficiency

Acid Lipase Deficiency

Acid Esterase Deficiency

Familial Xanthomatosis

Wolman Xanthomatosis

Wolman'S Disease

Wolman'S Or Triglyceride Storage Type Iii Disease

Xanthomatosis, Familial

Liposomal Acid Lipase Deficiency, Wolman Type

Familial Visceral Xanthomatosis

Primary Familial Xanthomatosis

Primary Familial Xanthomatosis With Adrenal Calcification

Acid Lipase Disease

WOD

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Cholesterol Ester Storage Disease
Lysosomal And Lipase Deficiency
Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Niemann-Pick Disease, Type C2

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2

Sea-Blue Histiocyte Disease

Sea-Blue Histiocytosis

Sea-Blue Histiocyte Syndrome

Histiocytosis, Sea-Blue

Inherited Lipemic Splenomegaly

SBHD

Nutmeg Liver

Chronic Passive Congestion Of Liver

Gaucher Disease, Perinatal Lethal

Gaucher Disease Perinatal Lethal

Gaucher Disease, Collodion Type

Gaucher'S Disease Perinatal Lethal

Fetal Gaucher Disease

Perinatal Lethal Gaucher Disease

Gaucher Disease Collodion Type

Gaucher Disease, Perinatal-Lethal Form

GDPL

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B

Acid Sphingomyelinase Deficiency, Visceral Type

Asmd, Visceral Type

Niemann Pick Disease Type B

Chronic Visceral Acid Sphingomyelinase Deficiency

Chronic Visceral Asmd

Npd-B

Niemann-Pick Disease B

NPDB

Niemann-Pick Disease Adult Non-Neuronopathic Form

Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

Niemann-Pick Disease Type E

Niemann-Pick Disease Type F

Niemann-Pick Disease Type I

Niemann-Pick Disease Visceral Form

Npb

Sphingomyelinase Deficiency

Sphingomyelin Lipidosis

Niemann-Picks Disease Type B

Niemann-Pick Disease, Type E

Niemann-Pick Diseases

Niemann-Pick Disease, Type A

C Syndrome

Opitz Trigonocephaly Syndrome

Trigonocephaly

Trigonocephaly Syndrome

Trigonocephaly C Syndrome

Opitz C Trigonocephaly

Opitz Trigonocephaly C Syndrome

Otcs

CSYN

Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency Of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

MANSA

Mannosidosis, Alpha-, Types I And Ii

Alpha-D-Mannosidosis

Alpha-Mannosidase Deficiency

Α-Mannosidosis

Alpha Mannosidase B Deficiency

Mannosidosis, Alpha B Lysosomal

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Alpha-Mannosidosis, Adult Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis Types I And Ii

Mannosidase Deficiency Diseases

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Sitosterolemia

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis

Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease

Sphingolipidosis

Sphingolipidoses

Mucopolysaccharidosis, Type Iva

Mps Iva

Galns Deficiency

MPS4A

Morquio A Disease

Galactosamine-6-Sulfatase Deficiency

Morquio Syndrome A

Mucopolysaccharidosis Iva

Mucopolysaccharidosis Type Iva

Mpsiva

Morquio Disease Type A

Mucopolysaccharidosis Type 4a

N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

Morquio Syndrome Type A

Mps 4a

Morquio Disease, Type A

Mucopolysaccharidosis 4a

Morquio'S Syndrome A

Mps Iv A

Mucopolysaccharidosis Iv

Mucopolysaccharidosis, Mps-Iv-A

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome

Arylsulfatase B Deficiency

Mucopolysaccharidosis Type Vi

Mps Vi

Mucopolysaccharidosis Vi

Mucopolysaccharidosis Type 6

MPS6

Arsb Deficiency

N-Acetylgalactosamine-4-Sulfatase Deficiency

Mucopolysaccharidosis 6

N-Acetylgalactosamine 4-Sulfatase Deficiency

Deficiency Of N-Acetylgalactosamine-4-Sulfatase

Maroteaux - Lamy Syndrome

Mps Vi - Maroteaux-Lamy Syndrome

Mps 6

Maroteaux Lamy Syndrome

Mucopoly-Saccharidosis Type Vi

Polydystrophic Dwarfism

Asb Deficiency

Mpsvi

Maroteaux-Lamy Disease

Arsb - [Arylsulfatase B] Deficiency

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Mucopolysaccharidosis, Type Ii

Hunter Syndrome

Iduronate 2-Sulfatase Deficiency

Mucopolysaccharidosis Ii

Mps Ii

Mucopolysaccharidosis Type Ii

MPS2

Sulfoiduronate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Ii

Ids Deficiency

Sids Deficiency

I2s Deficiency

Mucopolysaccharidosis Type 2

Mucopolysaccharidosis Type 2, Severe Form

Deficiency Of Iduronate-2-Sulphatase

Hunter'S Syndrome

Mps Ii - Hunter Syndrome

Iduronate-2-Sulfatase Deficiency

Attenuated Mps

Mps 2

Severe Mps Ii

Mpsii

Mucopolysaccharidosis Type 2, Attenuated Form

Hunter Syndrome Type B

Iduronate 2-Sulfatase Deficiency Type B

Mps2b

Mpsiib

Mucopolysaccharidosis Type 2b

Mucopolysaccharidosis Type Ii, Attenuated Form

Mucopolysaccharidosis Type Iib

Hunter Syndrome Type A

Iduronate 2-Sulfatase Deficiency Type A

Mps2a

Mpsiia

Mucopolysaccharidosis Type 2a

Mucopolysaccharidosis Type Ii, Severe Form

Mucopolysaccharidosis Type Iia

Mucopolysaccharidosis 2

Hunters Syndrome

Iduronate 2-Sulphatase Deficiency

Iduronate Sulfatase Deficiency

Iduronate Sulphatase Deficiency

Sulfo-Iduronate Sulfatase Deficiency

Sulfoiduronidate Sulfatase Deficiency

Sulpho-Iduronate Sulphatase Deficiency

Sulphoiduronidate Sulphatase Deficiency

Mps2 - [Mucopolysaccharidosis 2]

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency

MLD

Arsa Deficiency

Sulfatide Lipidosis

Metachromatic Leukoencephalopathy

Cerebral Sclerosis, Diffuse, Metachromatic Form

Cerebroside Sulfatase Deficiency

Leukodystrophy, Metachromatic

Pseudoarylsulfatase A Deficiency

Leukodystrophy Metachromatic

Sulfatidosis

Metachromatic Leukodystrophy, Late Infantile

Metachromatic Leukodystrophy Variant

Deficiency Of Cerebroside-Sulfatase

Scholz Cerebral Sclerosis

Sulfatide Lipoidosis

Cerebral Sclerosis Diffuse Metachromatic Form

Arylsulfatase A Deficiency Disease

Cerebroside Sulphatase Deficiency Disease

Greenfield Disease

Metachromatic Leukodystrophy, Adult

Metachromatic Leukodystrophy, Juvenile

Leukodystrophy Metachromatic Adult

Leukodystrophy Metachromatic Juvenile

Leukodystrophy Metachromatic Late Infantile

Metachromatic Leukodystrophy, Adult Type

Metachromatic Leukodystrophy, Juvenile Type

Metachromatic Leukodystrophy, Infant

Greenfield'S Disease

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia

MPS3A

Mps Iiia

Sanfilippo Syndrome A

Heparan Sulfate Sulfatase Deficiency

Sulfamidase Deficiency

Heparan Sulfamidase Deficiency

Mpsiiia

Mucopolysaccharidosis Type 3a

Sanfilippo Syndrome Type A

Mucopolysaccharidosis Iii-A

Heparane Sulfamidase Deficiency

Mps 3a

Mucopoly-Saccharidosis Type 3a

Mps Iii-A

Mucopolysaccharidosis 3a

Mucopolysaccharidosis Iii

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Rattus norvegicus LIPA RGD RGD:3008
Bos taurus LIPA VGNC VGNC:30904
Canis familiaris LIPA VGNC VGNC:42693
Mus musculus LIPA MGD MGI:96789
Macaca mulatta LIPA VGNC VGNC:106068
Felis catus LIPA VGNC VGNC:68055
Canis lupus familiaris LIPA NCBI
Others LIPA NCBI