Mouse Anti-ALDH18A1 Recombinant Antibody (2B5) (CBMAB-A2239-YC)

aldehyde dehydrogenase 18 family, member A1

ALDH18A1 belongs to the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction o

Aldehyde Dehydrogenase 18 Family Member A1; Pyrroline-5-Carboxylate Synthetase (Glutamate Gamma-Semialdehyde Synthetase); Aldehyde Dehydrogenase Family 18 Member A1; Spastic Paraplegia 9 (Autosomal Dominant); GSAS; PYCS; P5CS; Spastic Paraplegia-9 (Spasti

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Citrulline biosynthetic process Source: UniProtKB
Glutamate metabolic process Source: UniProtKB
Glutamine family amino acid metabolic process Source: Reactome
L-proline biosynthetic process Source: UniProtKB-UniPathway
Ornithine biosynthetic process Source: UniProtKB
Proline biosynthetic process Source: UniProtKB

Mitochondrion inner membrane

Cutis laxa, autosomal recessive, 3A (ARCL3A): A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Cutis laxa, autosomal dominant, 3 (ADCL3): A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation.
Spastic paraplegia 9A, autosomal dominant (SPG9A): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency.
Spastic paraplegia 9B, autosomal recessive (SPG9B): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients.