full name
aldehyde dehydrogenase 18 family member A1

synonyms
ARCL3A, GSAS, P5CS, PYCS, ALDH18A1, ENSG00000059573

HGNC
HGNC:9722

Entrez Gene
Gene:5832

ENSEMBL
ENSG00000059573

location
chr: 10
start: 97365686
stop: 97416759
strand: -

OMIM
OMIM:138250: ALDH18A1
OMIM:616603: Cutis laxa, autosomal dominant 3
OMIM:219150: Cutis laxa, autosomal recessive, type IIIA
OMIM:601162: Spastic paraplegia 9A, autosomal dominant
OMIM:616586: Spastic paraplegia 9B, autosomal recessive

transcripts
NM_001017423.1
NM_002860.3

pathways
Amino acid synthesis and interconversion (transamination) [NCBI:1270159] [REACTOME:R-HSA-70614]
Arginine and proline metabolism [NCBI:82957] [KEGG:hsa00330] [PUBMED:15590624] [PUBMED:5288244] [PUBMED:16499623]
Biosynthesis of amino acids [NCBI:790012] [KEGG:hsa01230]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Proline biosynthesis, glutamate => proline [NCBI:413349] [KEGG:hsa_M00015]
ornithine de novo biosynthesis [NCBI:142133] [BIOCYC:HUMAN_ARGININE-SYN4-PWY] [PUBMED:8761662] [PUBMED:2507357] [PUBMED:8207021]
proline biosynthesis [NCBI:547488] [BIOCYC:HUMAN_PROSYN-PWY] [PUBMED:8761662] [PUBMED:1730675]