Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ALAS2 contributors: mct - updated : 09-07-2012
HGNC name aminolevulinate, delta-, synthase 2
HGNC id 397
ASSOCIATED DISORDERS
corresponding disease(s) ASB , EPPX
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     gain of function
ALAS2 gain-of-function mutation contributes to the CEP (congenital erythropoietic porphyria) phenotype underscores the importance of modifier genes underlying CEP
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS