PGM2L1 - phosphoglucomutase 2 like 1 Gene

Homo sapiens

Also known as BM32A; PMMLP

Gene ID: 283209 | Gene type: protein coding

About PGM2L1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,330,316-74,398,433 (from NCBI)

This gene has 2 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 28.2), endometrium (RPKM 3.0) and 7 other tissues.

Summary

Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process and phosphorylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PGM2L1 Products(1)

mRNA	Protein	Name
NM_173582.6	NP_775853.2	glucose 1,6-bisphosphate synthase

PGM2L1 Protein Structure

PGM_PMM_I

PGM_PMM_II

PGM_PMM_III

PGM_PMM_IV

0
100
200
300
400
500
622 a.a.

Protein Preferred Names

Protein Names

glucose 1,6-bisphosphate synthase

Related Diseases

Diseases

Alias

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

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-RS10391	PGM2L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PGM2L1	RGD	RGD:1583226
Mus musculus	PGM2L1	MGD	MGI:1918224
Canis familiaris	PGM2L1	VGNC	VGNC:44465
Felis catus	PGM2L1	VGNC	VGNC:64125
Bos taurus	PGM2L1	VGNC	VGNC:32795
Macaca mulatta	PGM2L1	VGNC	VGNC:75839

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