ALDH18A1 - aldehyde dehydrogenase 18 family member A1 Gene

Also Known as GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5832

About ALDH18A1

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:95,605,941-95,656,711 (from NCBI)

This gene has 5 transcripts (splice variants), 261 orthologues and is associated with 14 phenotypes. Ubiquitous expression in duodenum (RPKM 41.4), small intestine (RPKM 34.7) and 25 other tissues.

Summary

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]

ALDH18A1 Products (10)

mRNA Protein Name
NM_001017423.2 NP_001017423.1 delta-1-pyrroline-5-carboxylate synthase isoform 2
NM_001323412.2 NP_001310341.1 delta-1-pyrroline-5-carboxylate synthase isoform 3
NM_001323413.2 NP_001310342.1 delta-1-pyrroline-5-carboxylate synthase isoform 1
NM_001323414.2 NP_001310343.1 delta-1-pyrroline-5-carboxylate synthase isoform 1
NM_001323415.2 NP_001310344.1 delta-1-pyrroline-5-carboxylate synthase isoform 2
NM_001323416.2 NP_001310345.1 delta-1-pyrroline-5-carboxylate synthase isoform 3
NM_001323417.2 NP_001310346.1 delta-1-pyrroline-5-carboxylate synthase isoform 4
NM_001323418.2 NP_001310347.1 delta-1-pyrroline-5-carboxylate synthase isoform 5
NM_001323419.2 NP_001310348.1 delta-1-pyrroline-5-carboxylate synthase isoform 6
NM_002860.4 NP_002851.2 delta-1-pyrroline-5-carboxylate synthase isoform 1
Molecular Function GO Annotation Evidence Verweise Source
enables glutamate 5-kinase activity IDA
IDA: Inferred from direct assay
11092761 GOA
enables glutamate 5-kinase activity IMP
IMP: Inferred from mutant phenotype
26297558 GOA
enables glutamate-5-semialdehyde dehydrogenase activity IDA
IDA: Inferred from direct assay
11092761 GOA
enables glutamate-5-semialdehyde dehydrogenase activity IMP
IMP: Inferred from mutant phenotype
26297558 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
26297558 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in citrulline biosynthetic process IMP
IMP: Inferred from mutant phenotype
11092761 GOA
involved in glutamate metabolic process IMP
IMP: Inferred from mutant phenotype
11092761 GOA
involved in ornithine biosynthetic process IMP
IMP: Inferred from mutant phenotype
11092761 GOA
involved in proline biosynthetic process IMP
IMP: Inferred from mutant phenotype
11092761 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in mitochondrion IDA
IDA: Inferred from direct assay
26297558 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH18A1 Protein Structure

AA_kinase

AA_kinase: Amino acid kinase family (71 - 329)

Aldedh

Aldedh: Aldehyde dehydrogenase family (368 - 627)

  • 0
  • 200
  • 400
  • 600
  • 795 a.a.
Protein Preferred Names Protein Names

delta-1-pyrroline-5-carboxylate synthase

  • Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)

ALDH18A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ALDH18A1 P54886 CMTM5 Homo sapiens Q96DZ9 25416956
Intra
ALDH18A1 P54886 DARS2 Homo sapiens Q6PI48 32296183
Intra
ALDH18A1 P54886 DARS2 Homo sapiens Q6PI48 32296183
Intra
ALDH18A1 P54886 DARS2 Homo sapiens Q6PI48 32296183
Intra
ALDH18A1 P54886 COQ9 Homo sapiens O75208 32296183
Intra
ALDH18A1 P54886 COQ9 Homo sapiens O75208 32296183
Intra
ALDH18A1 P54886 AGTRAP Homo sapiens Q6RW13 25416956
Intra
ALDH18A1 P54886 AGTRAP Homo sapiens Q6RW13 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

ALDH18A1 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P811163 P5CS Antibody WB, ICC/IF Human, Mouse

Related Diseases

Diseases Alias
Spastic Paraplegia 9a, Autosomal Dominant
  • Hereditary Spastic Paraplegia 9a

  • SPG9A

  • Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

  • Ad-Spg9a

  • Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

  • Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

  • Autosomal Dominant Complex Spastic Paraplegia Type 9a

  • Autosomal Dominant Spastic Paraplegia 9a

  • Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

  • Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

  • Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

  • Autosomal Dominant Spastic Paraplegia Type 9a

  • Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

  • Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

  • Spastic Paraplegia 9, Autosomal Dominant

Spastic Paraplegia 9b, Autosomal Recessive
  • SPG9B

  • Autosomal Recessive Complex Spastic Paraplegia Type 9b

  • Hereditary Spastic Paraplegia 9b

  • Autosomal Recessive Spastic Paraplegia 9b

  • Autosomal Recessive Spastic Paraplegia Type 9b

  • Ar-Spg9b

Cutis Laxa, Autosomal Recessive, Type Iiia
  • ARCL3A

  • De Barsy Syndrome A

  • Aldh18a1-Related De Barsy Syndrome

  • Progeroid Syndrome Of De Barsy

  • Autosomal Recessive Cutis Laxa Type Iiia

  • P5cs Deficiency

  • De Barsy Syndrome

  • Cutis Laxa, Corneal Clouding, And Mental Retardation

  • Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency

  • Neurocutaneous Syndrome, Bicknell Type

  • Cutis Laxa Corneal Clouding Mental Retardation

  • Progeroid Syndrome De Barsy Type

  • Cutis Laxa, Autosomal Recessive, 3a

  • Cutis Laxa Autosomal Recessive Type Iiia

  • Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin

  • Neurocutaneous Syndrome Bicknell Type

  • Corneal Clouding Cutis Laxa Mental Retardation

Cutis Laxa, Autosomal Dominant 3
  • ADCL3

  • Autosomal Dominant Cutis Laxa 3

  • Cutis Laxa, Autosomal Dominant, 3

Autosomal Recessive Cutis Laxa Type Iii
  • De Barsy Syndrome

  • Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome

  • Progeroid Syndrome, De Barsy Type

  • Corneal Clouding, Cutis Laxa And Intellectual Disability

  • Cutis Laxa Growth Deficiency Syndrome

  • Progeroid Syndrome Of De Barsy

Spastic Paraplegia 9
  • Autosomal Dominant Spastic Paraparesis

  • Bilateral Cataracts, Gastroesophageal Reflux, And Spastic Paraparesis With Amyotrophy

  • Cataracts, Motor Neuronopathy, Short Stature And Skeletal Abnormalities

  • Spg9

  • Spastic Paraplegia 9, Autosomal Dominant

Autosomal Dominant Spastic Paraplegia Type 9b
  • Ad-Spg9b

Cutis Laxa, Autosomal Dominant 1
  • Cutis Laxa, Autosomal Dominant

  • Autosomal Dominant Cutis Laxa

  • ADCL1

  • Adcl

  • Autosomal Dominant Cutis Laxa 1

  • Cutis Laxa, Autosomal Dominant, 1

  • Cutis Laxa, Autosomal Dominant, Type 1

Spastic Paraplegia 5a, Autosomal Recessive
  • SPG5A

  • Hereditary Spastic Paraplegia 5a

  • Autosomal Recessive Spastic Paraplegia 5a

  • Autosomal Recessive Spastic Paraplegia Type 5a

  • Spastic Paraplegia 5a

  • Spastic Paraplegia Type 5a

  • Spastic Paraplegia Type 5a, Recessive

  • Autosomal Recessive Spastic Paraplegia

  • Spastic Paraplegia-5a

  • Paraplegia, Spastic, Autosomal Recessive, Type 5a

Cutis Laxa
  • Generalized Elastolysis

  • Loose Skin

  • Dermatolysis

  • Dermatomegaly

  • Cutis Laxa Syndrome

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Paraplegia
  • Paraplegia, Lower

  • Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Gastroesophageal Reflux
  • Gastroesophageal Reflux Disease

  • Gerd

  • GER

  • Gastroesophageal Reflux, Pediatric

  • Acid Reflux

  • Gastresophageal Reflux

  • Gastro-Esophageal Reflux

  • Gerd - Gastro-Esophageal Reflux Disease

Cutis Laxa, Autosomal Recessive, Type Iiib
  • ARCL3B

  • De Barsy Syndrome B

  • Pycr1-Related De Barsy Syndrome

  • Autosomal Recessive Cutis Laxa Type Iiib

  • Pycr1 Deficiency

  • Pyrroline-5-Carboxylate Reductase 1 Deficiency

  • Cutis Laxa, Autosomal Recessive, 3b

  • Cutis Laxa Autosomal Recessive Type Iiib

  • Cutis Laxa, Autosomal Recessive, Type 3b

Spastic Paraparesis
Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Cutis Laxa, Autosomal Recessive, Type Iib
  • ARCL2B

  • Cutis Laxa With Progeroid Features

  • Autosomal Recessive Cutis Laxa Type 2b

  • Autosomal Recessive Cutis Laxa Type Iib

  • Arcl2, Progeroid Type

  • Cutis Laxa, Autosomal Recessive Type 2b

  • Autosomal Recessive Cutis Laxa Type 2, Progeroid Type

  • Cutis Laxa, Autosomal Recessive, 2b

  • Cl Type Iib

  • Cutis Laxa Autosomal Recessive Type Iib

  • Cutis Laxa, Autosomal Recessive, Type 2b

Spastic Paraplegia 19, Autosomal Dominant
  • SPG19

  • Hereditary Spastic Paraplegia 19

  • Autosomal Dominant Spastic Paraplegia Type 19

  • Autosomal Dominant Spastic Paraplegia 19

  • Spastic Paraplegia 19

  • Spastic Paraplegia-19

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Cutis Laxa, Autosomal Recessive, Type Iid
  • ARCL2D

  • Autosomal Recessive Cutis Laxa Type Iid

  • Autosomal Recessive Cutis Laxa Type 2d

  • Cutis Laxa, Autosomal Recessive, 2d

Hyperprolinemia
  • Proline Oxidase Deficiency

  • Hyperprolinemia Type 1

  • Proline Hydrogenase Deficiency

  • Prolinemia

  • Pyrroline Carboxylate Dehydrogenase Deficiency

  • Pyrroline-5-Carboxylate Dehydrogenase Deficiency

  • Proline Dehydrogenase Deficiency

  • Hyperprolinemia Type 2

Spastic Paraplegia 34, X-Linked
  • SPG34

  • Hereditary Spastic Paraplegia 34

  • X-Linked Spastic Paraplegia Type 34

  • X-Linked Spastic Paraplegia 34

Spastic Paraplegia 14, Autosomal Recessive
  • SPG14

  • Hereditary Spastic Paraplegia 14

  • Autosomal Recessive Spastic Paraplegia Type 14

  • Autosomal Recessive Spastic Paraplegia 14

  • Spastic Paraplegia 14

Mend Syndrome
  • Male Ebp Disorder With Neurological Defects

  • MEND

  • Male Ebp Disorder With Neurologic Defects

Cutis Laxa, Autosomal Recessive, Type Iia
  • ARCL2A

  • Cutis Laxa With Joint Laxity And Retarded Development

  • Cutis Laxa With Growth And Developmental Delay

  • Cutis Laxa, Debre Type

  • Cutis Laxa With Bone Dystrophy

  • Arcl2

  • Cutis Laxa With Congenital Disorder Of Glycosylation

  • Autosomal Recessive Cutis Laxa Type Iia

  • Cutis Laxa, Autosomal Recessive Type 2a

  • Cutis Laxa, Autosomal Recessive, 2a

  • Cl Type Iia

  • Cutis Laxa Autosomal Recessive Type Iia

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Spastic Paraplegia 36, Autosomal Dominant
  • SPG36

  • Hereditary Spastic Paraplegia 36

  • Autosomal Dominant Spastic Paraplegia Type 36

  • Autosomal Dominant Spastic Paraplegia 36

Gamma-Amino Butyric Acid Metabolism Disorder
  • Disorder Of Gamma-Aminobutyric Acid Metabolism

  • Disorder Of Gaba Metabolism

  • Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Geroderma Osteodysplasticum
  • Gerodermia Osteodysplastica

  • Geroderma Osteodysplastica

  • GO

  • Walt Disney Dwarfism

  • Type Of Gerodermia Osteodysplastica

Autosomal Recessive Cutis Laxa Type Ii Classic Type
  • Arcl2, Classic Type

  • Arcl2, Debre Type

  • Autosomal Recessive Cutis Laxa Type 2, Classic Type

  • Autosomal Recessive Cutis Laxa Type 2, Debre Type

Succinic Semialdehyde Dehydrogenase Deficiency
  • 4-Hydroxybutyric Aciduria

  • Ssadh Deficiency

  • Gamma-Hydroxybutyric Aciduria

  • Gaba Metabolic Defect

  • SSADHD

  • Ssadh

  • Succinate-Semialdehyde Dehydrogenase Deficiency

  • Gamma-Hydroxybutyricaciduria

  • 4-Hydroxybutyricaciduria

  • Gamma-Hydroxybutyric Acidemia

  • Succinate Semialdehyde Dehydrogenase Deficiency

Leukodystrophy, Hypomyelinating, 10
  • Hypomyelinating Leukodystrophy 10

  • HLD10

  • Pycr2-Related Microcephaly-Progressive Leukoencephalopathy

  • Leukodystrophy, Hypomyelinating, Type 10

Hyperprolinemia, Type Ii
  • Hyperprolinemia Type 2

  • HYRPRO2

  • Hpii

  • 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency

  • Hyperprolinemia Type Ii

  • 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency

  • Type 2 Hyperprolinemia

  • Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency

  • Hyperprolinemia 2

Cutis Laxa, Autosomal Recessive, Type Ia
  • ARCL1A

  • Cutis Laxa, Autosomal Recessive

  • Autosomal Recessive Cutis Laxa Type Ia

  • Cutis Laxa, Autosomal Recessive, Type 1a

  • Arcl1

  • Cutis Laxa, Autosomal Recessive, 1a

  • Cl Type I

  • Cutis Laxa Autosomal Recessive Type I

  • Cutis Laxa Autosomal Recessive Type Ia

  • Cutis Laxa, Autosomal Recessive, Type I

Cutis Laxa, Autosomal Recessive, Type Ib
  • ARCL1B

  • Cutis Laxa, Autosomal Recessive, Type 1b

  • Autosomal Recessive Cutis Laxa Type Ib

  • Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency

  • Cutis Laxa, Autosomal Recessive, 1b

  • Cutis Laxa Autosomal Recessive Type Ib

Cutis Laxa, Autosomal Recessive, Type Ic
  • Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities

  • ARCL1C

  • Urban-Rifkin-Davis Syndrome

  • Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies

  • URDS

  • Autosomal Recessive Cutis Laxa Type Ic

  • Autosomal Recessive Cutis Laxa Type 1c

  • Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities

Wrinkly Skin Syndrome
  • WSS

  • Wrinkled Skin Syndrome

Autosomal Recessive Cutis Laxa Type I
  • Autosomal Recessive Cutis Laxa Type 1

  • Cutis Laxa, Type 1

  • Cutis Laxa, Autosomal Recessive, Type I

  • Cutis Laxa, Autosomal Recessive Type 1

  • Cutis Laxa, Autosomal Recessive

  • Arcl1

  • Autosomal Recessive Cutis Laxa With Severe Systemic Involvement

  • Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type

Immunodeficiency 47
  • Congenital Disorder Of Glycosylation Type Ii

  • CDG2E

  • Congenital Disorder Of Glycosylation Type Iie

  • IMD47

  • Cdg2s

  • Cdg Iis

  • Cdgiis

  • Immunodeficiency And Hepatopathy With Or Without Neurologic Features

  • Congenital Disorder Of Glycosylation, Type Ii

  • CDG1I

  • Congenital Disorder Of Glycosylation, Type Iie

  • Cdg Iie

  • Congenital Disorder Of Glycosylation Type 2e

  • Congenital Disorder Of Glycosylation, Type Iis

  • Cdg Ii

  • Cdgii

  • Cdgiie

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iie

  • Cdg Syndrome Type Iie

  • Congenital Disorder Of Glycosylation Ii

  • Congenital Disorder Of Glycosylation 1i

  • Cdg-Iie

  • Alg2-Cdg

  • Cdg-Ii

  • Glycosylation, Congenital Disorder Of, Type Ii

  • Cdgiide

  • Congenital Disorder Of Glycosylation Type Iis

  • Cog7-Cdg

  • Cdg Syndrome Type Ii

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ii

  • Congenital Disorder Of Glycosylation Type 1i

  • Mannosyltransferase 2 Deficiency

  • Congenital Disorder Of Glycosylation 2e

  • Congenital Disorder Of Glycosylation 2s

  • Congenital Disorders Of Glycosylation Type Ii

  • Glycosylation, Congenital Disorder Of, Type Iie

  • Immunodeficiency, Type 47

  • Congenital Disorder Of Glycosylation Type 2a

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
  • Hhh Syndrome

  • Ornithine Translocase Deficiency

  • Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome

  • HHHS

  • Hhh

  • Triple H Syndrome

  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

  • Ornithine Translocase Deficiency Syndrome

  • Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

  • Ornt1 Deficiency

  • Ornithine Carrier Deficiency

  • Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

Spastic Paraplegia 64, Autosomal Recessive
  • SPG64

  • Hereditary Spastic Paraplegia 64

  • Autosomal Recessive Spastic Paraplegia Type 64

  • Autosomal Recessive Spastic Paraplegia 64

  • Paraplegia, Spastic, Type 64, Autosomal Recessive

Spastic Paraplegia 8, Autosomal Dominant
  • SPG8

  • Hereditary Spastic Paraplegia 8

  • Autosomal Dominant Spastic Paraplegia Type 8

  • Autosomal Dominant Spastic Paraplegia 8

  • Paraplegia, Spastic, Autosomal Dominant, Type 8

Occipital Horn Syndrome
  • OHS

  • Eds Ix

  • Cutis Laxa X-Linked

  • Cutis Laxa, X-Linked

  • Cutis Laxa, X-Linked, Formerly

  • Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

  • Eds Ix, Formerly

  • Eds9, Formerly

  • Ehlers-Danlos Syndrome Type 9

  • Ehlers-Danlos Syndrome Type Ix

  • X-Linked Cutis Laxa

  • Ehlers-Danlos Syndrome, Occipital Horn Type

  • Eds9

  • Ehlers-Danlos Syndrome Occipital Horn Type

Argininemia
  • Hyperargininemia

  • Arginase Deficiency

  • Arg1 Deficiency

  • Arginase-1 Deficiency

  • Deficiency Of Canavanase

  • Arginase Deficiency Disease

  • ARGIN

Epilepsy, Pyridoxine-Dependent
  • Pyridoxine-Dependent Epilepsy

  • PDE

  • Pyridoxine Dependency With Seizures

  • Vitamin B6-Dependent Seizures

  • EPD

  • Aasa Dehydrogenase Deficiency

  • Antiquitin Deficiency

  • Pyridoxine Dependency

  • Glutamate Decarboxylase Deficiency

  • Pyridoxine-Dependent Seizures

  • Deficiency Of Glutamate Decarboxylase

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

Spastic Paraplegia 10, Autosomal Dominant
  • SPG10

  • Hereditary Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia Type 10

  • Spastic Paraplegia 10

  • Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

  • Autosomal Dominant Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia

  • Spastic Paraplegia, Autosomal Dominant

  • Paraplegia, Spastic, Autosomal Dominant, Type 10

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 ALDH18A1 VGNC VGNC:69821
Mus musculus ALDH18A1 MGD MGI:1888908
Canis familiaris ALDH18A1 VGNC VGNC:37781
Bos taurus ALDH18A1 VGNC VGNC:25807
Felis catus ALDH18A1 VGNC VGNC:69191
Rattus norvegicus ALDH18A1 RGD RGD:1311431
Others ALDH18A1 NCBI