2. Gene
  3. AASDH - aminoadipate-semialdehyde dehydrogenase Gene

AASDH - aminoadipate-semialdehyde dehydrogenase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as LYS2; ACSF4; NRPS998; NRPS1098

Gene ID: 132949 | Gene type: protein coding

About AASDH

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,338,290-56,387,491 (from NCBI)

This gene has 10 transcripts (splice variants), 194 orthologues and 13 paralogues. Ubiquitous expression in thyroid (RPKM 3.4), ovary (RPKM 3.2) and 25 other tissues.

Summary

This gene encodes a member of the non-ribosome peptide syntesase (NRPS) Enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]

AASDH Products(10)

mRNA Protein Name
NM_001286668.2 NP_001273597.1 beta-alanine-activating enzyme isoform 2
NM_001286669.2 NP_001273598.1 beta-alanine-activating enzyme isoform 3
NM_001286670.2 NP_001273599.1 beta-alanine-activating enzyme isoform 4
NM_001286671.2 NP_001273600.1 beta-alanine-activating enzyme isoform 5
NM_001286672.2 NP_001273601.1 beta-alanine-activating enzyme isoform 6
NM_001323890.2 NP_001310819.1 beta-alanine-activating enzyme isoform 7
NM_001323892.2 NP_001310821.1 beta-alanine-activating enzyme isoform 8
NM_001323893.2 NP_001310822.1 beta-alanine-activating enzyme isoform 9
NM_001323899.2 NP_001310828.1 beta-alanine-activating enzyme isoform 10
NM_181806.4 NP_861522.2 beta-alanine-activating enzyme isoform 1

AASDH Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (9 - 449)

PP-binding

PP-binding: Phosphopantetheine attachment site (557 - 625)

PQQ_2

PQQ_2: PQQ-like domain (781 - 894)

PQQ_3

PQQ_3: PQQ-like domain (967 - 1005)

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  • 1098 a.a.
Protein Preferred Names Protein Names

beta-alanine-activating enzyme

2-aminoadipic 6-semialdehyde dehydrogenase

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q

CMT2Q

Charcot-Marie-Tooth Neuropathy, Type 2q

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Neuropathy Type 2q

Charcot-Marie-Tooth Disease 2q

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q

Charcot-Marie-Tooth Neuropathy Axonal Type 2q
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

2-Aminoadipic 2-Oxoadipic Aciduria

Amoxad

AAKAD

2-Ketoadipic Aciduria

Alpha-Aminoadipic Aciduria

Amino Adipic Aciduria

Aciduria, 2-Aminoadipic 2-Oxoadipic
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
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
Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1
Hyperlysinemia, Type I

Hyperlysinemia

Lysine Intolerance

Alpha-Aminoadipic Semialdehyde Synthase Deficiency

Lysine:Alpha-Ketoglutarate Reductase Deficiency

L-Lysine:Nad-Oxido-Reductase Deficiency

Lysine Alpha-Ketoglutarate Reductase Deficiency

Alpha-Aminoadipic Semialdehyde Deficiency Disease

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

Saccharopinuria

Hyperlysinemia Type I

Hyperlysinemias

L-Lysine Nad-Oxido-Reductase Deficiency

Familial Hyperlysinemia

Saccharopine Dehydrogenase Deficiency Disease

Hyperlysinemia, 1

HYPLYS1

Saccharopine Dehydrogenase Deficiency
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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-RS00031 AASDH Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris AASDH VGNC VGNC:37417
Macaca mulatta AASDH VGNC VGNC:69517
Felis catus AASDH VGNC VGNC:59456
Rattus norvegicus AASDH RGD RGD:1311135
Bos taurus AASDH VGNC VGNC:25450
Mus musculus AASDH MGD MGI:2442517