LIPA
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LIPA (HGNC:6617) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lipase A, lysosomal acid type
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
LAL, CESD
%HI
78.66(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.38(Read more about gnomAD LOEUF score)
Cytoband
10q23.31
Genomic Coordinates
GRCh37/hg19: chr10:90973329-91011532 NCBI Ensembl UCSC
GRCh38/hg38: chr10:89213572-89251775 NCBI Ensembl UCSC
MANE Select Transcript
NM_000235.4 ENST00000336233.10 (Read more about MANE Select)
Function
Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol. {ECO:0000269|PubMed:15269241, ECO:0000269|PubMed:1718995, ECO:0000269|PubMed:7204383, ECO:0000269|PubMed:8112342, ECO:0000269|PubMed:9633819}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17096
ClinGen Curation ID:
CCID:007405
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • lysosomal acid lipase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)