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Gene: AASS (aminoadipate-semialdehyde synthase) Homo sapiens
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Symbol: AASS
Name: aminoadipate-semialdehyde synthase
Description: Predicted to have saccharopine dehydrogenase activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid. Localizes to the mitochondrion. Implicated in hyperlysinemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-aminoadipate semialdehyde synthase; alpha-aminoadipic semialdehyde synthase, mitochondrial; aminoadipic semialdehyde synthase; LKR/SDH; LKRSDH; LORSDH; lysine-2-oxoglutarate reductase; lysine-ketoglutarate reductase /saccharopine dehydrogenase
Orthologs:
Mus musculus (house mouse) : Aass (aminoadipate-semialdehyde synthase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Aass (aminoadipate-semialdehyde synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Aass (aminoadipate-semialdehyde synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : AASS (aminoadipate-semialdehyde synthase)
Canis lupus familiaris (dog) : AASS (aminoadipate-semialdehyde synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Aass (aminoadipate-semialdehyde synthase)
Sus scrofa (pig) : AASS (aminoadipate-semialdehyde synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387122,073,544 - 122,144,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377121,713,598 - 121,784,344 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367121,503,423 - 121,561,112 (-)NCBINCBI36hg18NCBI36
Build 347121,310,137 - 121,367,827NCBI
Celera7116,522,826 - 116,593,571 (-)NCBI
Cytogenetic Map7q31.32NCBI
HuRef7116,077,048 - 116,147,810 (-)NCBIHuRef
CHM1_17121,646,898 - 121,717,645 (-)NCBICHM1_1
CRA_TCAGchr7v27121,108,272 - 121,179,018 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on AASS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1321929
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.