about
P688
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthaseRecurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
P921
description
humanes Protein
@de
mammalian protein found in Homo sapiens
@en
menselijk eiwit
@nl
protein
@id
protein
@sv
proteinë
@sq
protèin
@ace
protéine humaine
@fr
بروتين بشري
@ar
name
Aldehyde dehydrogenase 18 family member A1
@en
Aldehyde dehydrogenase 18 family member A1
@nl
type
label
Aldehyde dehydrogenase 18 family member A1
@en
Aldehyde dehydrogenase 18 family member A1
@nl
altLabel
ALDH18A1
@en
Spastic paraplegia-9 (spastic ...... s and gastroesophageal reflux)
@en
aldehyde dehydrogenase family 18 member A1
@en
delta-1-pyrroline-5-carboxylate synthase
@en
delta-1-pyrroline-5-carboxylate synthetase
@en
delta1-pyrroline-5-carboxlate synthetase
@en
pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
@en
spastic paraplegia 9 (autosomal dominant)
@en
prefLabel
Aldehyde dehydrogenase 18 family member A1
@en
Aldehyde dehydrogenase 18 family member A1
@nl
P361
P527
P637
P680
P681
P682
P352
P637
P638
P31
P352
P361
P527
P637
NP_001017423
NP_001310341
NP_001310342
NP_001310343
NP_001310344
NP_001310345
NP_001310346
NP_001310347
NP_001310348
P680
P682
P702
P703
P705
ENSP00000360265
ENSP00000360268