ALAS2

GENE INFORMATION

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Gene name

ALAS2 (HGNC Symbol)

Synonyms

ASB

Description

aminolevulinate, delta-, synthase 2 (HGNC Symbol)

Entrez gene summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

p11.21

Chromosome location (bp)

55035488 - 55057497

Ensembl

ENSG00000158578 (version 73.37)

Entrez gene

212

UniProt

P22557 (UniProt - Evidence at protein level)

neXtProt

NX_P22557

Antibodypedia

ALAS2 antibodies
 

PROTEIN VIEW

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ALAS2-004
 
ALAS2-006
 
ALAS2-007
 
ALAS2-008
 
 
 
 
 

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)

ALAS2-004 ENSP00000407204
ENST00000455688
Show » Show » 222 24.8 No 0
ALAS2-006 ENSP00000332369
ENST00000330807
P22557
Show all »
Show » Show » 587 64.6 Yes 0
ALAS2-007 ENSP00000379501
ENST00000396198
Q5JZF5
Show all »
Show » Show » 574 63.5 Yes 0
ALAS2-008 ENSP00000337131
ENST00000335854
P22557
Show all »
Show » Show » 550 60.6 Yes 0