IMPA1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IMPA1 (HGNC:6050) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- inositol monophosphatase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- IMPA
- Alias symbols
- No aliases found
- %HI
- 39.68(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.2(Read more about gnomAD pLI score)
- LOEUF
- 1.53(Read more about gnomAD LOEUF score)
- Cytoband
- 8q21.13
- Genomic Coordinates
-
GRCh37/hg19: chr8:82569149-82598560 NCBI Ensembl UCSC GRCh38/hg38: chr8:81656914-81686325 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005536.4 ENST00000256108.10 (Read more about MANE Select)
- Function
- Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4- diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta- glycerophosphate, and 2'-AMP as substrates. {E... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-32859
ClinGen Curation ID:
CCID:007327
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/08/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)