1. Gene
  2. GMPPA - GDP-mannose pyrophosphorylase A Gene

GMPPA - GDP-mannose pyrophosphorylase A Gene

Homo sapiens

Also known as AAMR

Gene ID: 29926 | Gene type: protein coding

About GMPPA

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,498,891-219,506,989 (from NCBI)

This gene has 48 transcripts (splice variants), 216 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues.

Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. This Enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

GMPPA Products(4)

mRNA Protein Name
NM_001374294.1 NP_001361223.1 mannose-1-phosphate guanyltransferase alpha
NM_001374295.1 NP_001361224.1 mannose-1-phosphate guanyltransferase alpha
NM_013335.4 NP_037467.2 mannose-1-phosphate guanyltransferase alpha
NM_205847.3 NP_995319.1 mannose-1-phosphate guanyltransferase alpha

GMPPA Protein Structure

NTP_transferase

NTP_transferase: Nucleotidyl transferase (3 - 194)

Hexapep

Hexapep: Bacterial transferase hexapeptide (six repeats) (286 - 319)

  • 0
  • 100
  • 200
  • 300
  • 420 a.a.
Protein Preferred Names Protein Names

mannose-1-phosphate guanyltransferase alpha

GMPP-alpha

Related Diseases

Diseases Alias
Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Anisocoria
Developmental And Epileptic Encephalopathy 42

DEE42

Epileptic Encephalopathy, Early Infantile, 42

Eiee42

Developmental And Epileptic Encephalopathy, 42

Early Infantile Epileptic Encephalopathy 42

Encephalopathy, Epileptic, Early Infantile, Type 42

Congenital Disorder Of Glycosylation, Type Iiq

CDG2Q

Cdg Iiq

Cdgiiq

Congenital Disorder Of Glycosylation Type Iiq

Cog2-Cdg

Cog2-Related Congenital Disorder Of Glycosylation

Cdgiidq

Congenital Disorder Of Glycosylation 2q

Cdg-Iiq

Developmental And Epileptic Encephalopathy 15

DEE15

Epileptic Encephalopathy, Early Infantile, 15

Eiee15

Developmental And Epileptic Encephalopathy, 15

Early Infantile Epileptic Encephalopathy 15

Encephalopathy, Epileptic, Early Infantile, Type 15

Early Infantile Epileptic Encephalopathy With Suppression Bursts

X-Linked Infantile Spasm Syndrome

Ngly1-Deficiency

Deficiency Of N-Glycanase 1

Ngly1-Cddg

Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome

Ngly1 Deficiency

Congenital Disorder Of Deglycosylation

Congenital Disorder Of Glycosylation Type Iv

Congenital Disorder Of Deglycosylation

Cddg

Congenital Disorder Of Glycosylation Type Iv

Cdg1v

Congenital Disorder Of Glycosylation, Type Iin

CDG2N

Slc39a8-Cdg

Cdg Iin

Congenital Disorder Of Glycosylation Type Iin

Cdgiin

Carbohydrate Deficient Glycoprotein Syndrome Type Iin

Cdg Syndrome Type Iin

Congenital Disorder Of Glycosylation Type 2n

Cdg-Iin

Cdgiidn

Slc39a8 Deficiency

Congenital Disorder Of Glycosylation 2n

Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type Iii

CDG2I

Congenital Disorder Of Glycosylation Type Iii

Cdgiii

Carbohydrate Deficient Glycoprotein Syndrome Type Iii

Congenital Disorder Of Glycosylation Type 2i

Cog5-Cdg

Cdgiidi

Congenital Disorder Of Glycosylation 2i

Glycosylation, Congenital Disorder Of, Type Iii

Congenital Disorder Of Glycosylation, Type I-Iix

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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

Orthologs Information

Species Symbol Source ID
Canis familiaris GMPPA VGNC VGNC:41292
Felis catus GMPPA VGNC VGNC:62610
Bos taurus GMPPA VGNC VGNC:29440
Macaca mulatta GMPPA VGNC VGNC:72983
Mus musculus GMPPA MGD MGI:1916330
Rattus norvegicus GMPPA RGD RGD:1560644