AASS

GENE INFORMATION

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Gene name

AASS (HGNC Symbol)

Synonyms

LKRSDH, LORSDH

Description

aminoadipate-semialdehyde synthase (HGNC Symbol)

Entrez gene summary

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]

Chromosome

7 (Chromosome progress)

Cytoband

q31.32

Chromosome location (bp)

121715701 - 121784334

Ensembl

ENSG00000008311 (version 73.37)

Entrez gene

10157

UniProt

Q9UDR5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UDR5

Antibodypedia

AASS antibodies
 

PROTEIN VIEW

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AASS-001
 
AASS-003
 
AASS-005
 
AASS-006
 
AASS-007
 
 
 
 
 

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)

AASS-001 ENSP00000403768
ENST00000417368
Q9UDR5
Show all »
Show » Show » 926 102.1 No 0
AASS-003 ENSP00000377040
ENST00000393376
Q9UDR5
Show all »
Show » Show » 926 102.1 No 0
AASS-005 ENSP00000414001
ENST00000431170
F8WE53
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Show » Show » 511 56.9 No 0
AASS-006 ENSP00000351834
ENST00000358954
F8WAH1
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Show » Show » 732 81 No 0
AASS-007 ENSP00000394180
ENST00000426162
H7C0C6
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21 2.3 No 0