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ADSL adenylosuccinate lyase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000026 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001123378 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol ADSL
Entrez Gene ID 158
Full Name adenylosuccinate lyase
Synonyms AMPS, ASASE, ASL
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q13.1|22q13.2

Summary Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 608222

Adenylosuccinase deficiency, 103050 (3)

mRNA Protein Product Sequence Price Select
NM_000026, 183227686 NP_000017, 4557269 adenylosuccinate lyase isoform a ORF Sequence $360.00
NM_001123378, 183227687 NP_001116850, 183227688 adenylosuccinate lyase isoform b ORF Sequence $550.00
KEGG
hsa_M00049Adenine ribonucleotide biosynthesis, IMP => ADP,ATP
hsa_M00048Inosine monophosphate biosynthesis, PRPP + glutamine => IMP
hsa00250Alanine, aspartate and glutamate metabolism
hsa00230Purine metabolism
WikiPathways
WP404Nucleotide Metabolism
Reactome
REACT_1776Purine ribonucleoside monophosphate biosynthesis
REACT_1698Metabolism of nucleotides
REACT_111217Metabolism
REACT_522Purine metabolism
Homo sapiens (human)ADSLNP_000017.1
Pan troglodytes (chimpanzee)ADSLXP_003317301.1
Canis lupus familiaris (dog)ADSLXP_531727.3
Bos taurus (cattle)ADSLNP_001095847.1
Mus musculus (house mouse)AdslNP_033764.2
Rattus norvegicus (Norway rat)AdslNP_001123975.1
Gallus gallus (chicken)ADSLNP_990860.1
Danio rerio (zebrafish)adslNP_956193.1
Drosophila melanogaster (fruit fly)CG3590NP_650586.2
GeneCards ADSL
PDB 2VD6, 4FLC, 2J91, 4FFX
UniProt P30566
MIM 608222
Ensembl ENSG00000239900
HGNC 291
HPRD 00049

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Interactant



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