OPLAH - 5-oxoprolinase, ATP-hydrolysing Gene

Homo sapiens

Also known as OPLA; OPLAHD; 5-Opase

Gene ID: 26873 | Gene type: protein coding

About OPLAH

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,050,322-144,063,961 (from NCBI)

This gene has 4 transcripts (splice variants), 178 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 16.8), kidney (RPKM 6.8) and 20 other tissues.

Summary

The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]

OPLAH Products(1)

mRNA	Protein	Name
NM_017570.5	NP_060040.1	5-oxoprolinase

OPLAH Protein Structure

Hydant_A_N

Hydantoinase_A

Hydantoinase_B

0
200
400
600
800
1000
1200
1288 a.a.

Protein Preferred Names

Protein Names

5-oxoprolinase

5-oxo-L-prolinase

Related Diseases

Diseases

Alias

5-Oxoprolinase Deficiency

OPLAHD	Oxoprolinuria Due To 5-Oxoprolinase Deficiency
Oxoprolinuria Due To Oxoprolinase Deficiency	5-Alpha-Oxoprolinase Deficiency

Glutathione Synthetase Deficiency

5-Oxoprolinuria	Pyroglutamic Aciduria
Pyroglutamicaciduria	Glutathione Synthetase Deficiency With 5-Oxoprolinuria
GSSD	Oxoprolinase Deficiency
5-Oxoprolinemia	Deficiency Of Glutathione Synthase
Deficiency Of Glutathione Synthetase	Pyroglutamic Acidemia
GSS DEFICIENCY	Gluthathione Synthetase Deficiency
5-Oxoprolinase Deficiency

Tinea Favosa

Favus

Mend Syndrome

Male Ebp Disorder With Neurological Defects	MEND
Male Ebp Disorder With Neurologic Defects

Hawkinsinuria

4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency	4-Hppd Deficiency
4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency	HWKS
HAWK

Metabolic Acidosis

Hypoinsulinemic Hypoglycemia With Hemihypertrophy

Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy

HIHGHH

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Ck Syndrome

CKS	X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome
Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09794	OPLAH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OPLAH	MGD	MGI:1922725
Bos taurus	OPLAH	VGNC	VGNC:53869
Felis catus	OPLAH	VGNC	VGNC:68630
Canis familiaris	OPLAH	VGNC	VGNC:49607
Rattus norvegicus	OPLAH	RGD	RGD:620956
Macaca mulatta	OPLAH	VGNC	VGNC:84096

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