AASDH - aminoadipate-semialdehyde dehydrogenase Gene

Also Known as LYS2; ACSF4; NRPS998; NRPS1098

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 132949

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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  • 1000
  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00031 AASDH Human Pre-designed siRNA Set A Pre-designed Set / 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
Others AASDH NCBI