Mannosephosphate Isomerase - CAGS

Mannosephosphate Isomerase

Alternative Names

MPI
Phosphomannose Isomerase 1
PMI1
PMI

Associated Diseases

Congenital Disorder of Glycosylation, Type Ib

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

12,215 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Mannose-6-phosphate isomerase

Molecular Mass

46656 Da

Amino Acid Count

423

Genomic Location

chr15:74,890,005-74,902,219

Gene Map Locus

15q24.1

Description

The MPI gene codes for the Phosphomannose Isomerase enzyme which ctaalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate.

Epidemiology in the Arab World

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_002435.2:c.305C>T	Lebanon	Chr15:74891539	Pathogenic	Pathogenic	Congenital Disorder of Glycosylation, Type Ib	NG_008921.1:g.6471C>T; NM_002435.2:c.305C>T ; NP_002426.1:p.Ser102Leu	104894494	14346
NM_002435.2:c.413T>C	Lebanon	NC_000015.10:g.74892728T>C	Pathogenic	Pathogenic	Congenital Disorder of Glycosylation, Type Ib	NG_008921.1:g.7660T>C; NM_002435.2:c.413T>C ; NP_002426.1:p.Met138Thr	104894495	14347
NM_002435.2:c.863C>T	United Arab Emirates	NC_000015.10:g.74897029C>T		Likely Pathogenic	Congenital Disorder of Glycosylation, Type Ib	NG_008921.1:g.11961C>T; NM_002435.2:c.863C>T; NP_002426.1:p.Ala288Val	775111649

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External Links

https://rarediseases.info.nih.gov/diseases/9830/mpi-cdg-cdg-ib https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/

Contributors

Pratibha Nair: 29.01.2019

Edit History

Pratibha Nair: 29.01.2019
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 28.02.2004

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.