ADSL

GENE INFORMATION

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Gene name

ADSL

Synonyms

Description

adenylosuccinate lyase (HGNC Symbol)

Entrez gene 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]

Chromosome

22 (Chromosome progress)

Cytoband

q13.1

Chromosome location (bp)

40742507 - 40764823

Ensembl

ENSG00000239900 (version 73.37)

Entrez gene

158

UniProt

P30566 (UniProt - Evidence at protein level)

neXtProt

NX_P30566

Antibodypedia

ADSL antibodies
 

PROTEIN VIEW

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ADSL-001
 
ADSL-002
 
ADSL-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ADSL-001 ENSP00000216194
ENST00000216194
P30566
Show all »
Show » Show » 484 54.9 No 0
ADSL-002 ENSP00000341429
ENST00000342312
P30566
Show all »
Show » Show » 425 48.3 No 0
ADSL-201 ENSP00000390107
ENST00000454266
E7ERF4
Show all »
Show » 498 56.2 No 0