Gene: ALDH5A1

Alternate names for this Gene: SSADH|SSDH

Gene Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: aldehyde dehydrogenase 5 family member A1

Type of Gene: protein-coding

Gene: GPLD1

Alternate names for this Gene: GPIPLD|GPIPLDM|PIGPLD|PIGPLD1|PLD

Gene Summary: Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: glycosylphosphatidylinositol specific phospholipase D1

Type of Gene: protein-coding

rs765561257 in ALDH5A1;GPLD1 gene and succinic semialdehyde dehydrogenase deficiency PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 14635103 2003 Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

PMID 11901270 2002 Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.

PMID 11243727 2001 Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.