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

Cytoband

q13.1

Chromosome location (bp)

40346500 - 40369367

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000239900 (version 78.38)

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-009
 
ADSL-010
 
ADSL-011
 
ADSL-014
 
ADSL-016
 
ADSL-017
 
 
 
 
 

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 ENSP00000485525
ENST00000623063
X5D8S6
Show all »
Show » Show » 484 54.9 No 0
ADSL-002 ENSP00000341429
ENST00000342312
P30566
Show all »
Show » Show » 425 48.3 No 0
ADSL-009 ENSP00000485443
ENST00000423176
Show » 102 11.3 No 0
ADSL-010 ENSP00000485288
ENST00000623632
Show » Show » 262 29.6 No 0
ADSL-011 ENSP00000485477
ENST00000623978
Show » Show » 134 15.3 No 0
ADSL-014 ENSP00000485289
ENST00000625194
Show » Show » 360 40.8 No 0
ADSL-016 ENSP00000485202
ENST00000624027
Show » 81 8.8 No 0
ADSL-017 ENSP00000216194
ENST00000216194
P30566
Show all »
Show » Show » 498 56.2 No 0