LSS
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LSS (HGNC:6708) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lanosterol synthase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
OSC
%HI
24.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.05(Read more about gnomAD LOEUF score)
Cytoband
21q22.3
Genomic Coordinates
GRCh37/hg19: chr21:47608360-47648688 NCBI Ensembl UCSC
GRCh38/hg38: chr21:46188446-46228774 NCBI Ensembl UCSC
MANE Select Transcript
NM_002340.6 ENST00000397728.8 (Read more about MANE Select)
Function
Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:7639730, PubMed:26200341). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341). {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:26200341, ECO:0000269|PubMed:7639730}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27091
ClinGen Curation ID:
CCID:007422
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
From OMIM #600909: "[Holoprosencephaly type 1 (HPE1)] maps to the same interval as LSS on chromosome 21. LSS was considered an excellent candidate gene for HPE because of the requirement for cholesterol modification of the Sonic hedgehog protein (SHH; 600725), an HPE-associated protein, for correct patterning activity. Despite an extensive pedigree analysis of numerous polymorphisms, as well as complementation studies in yeast on one of the missense mutations, Roessler et al. (1999) could find no evidence that the LSS gene is responsible for HPE1, thus implicating another gene located in the 21q22.3 region in HPE pathogenesis [PMID: 10598817]." Additionally, Rosenfeld et a. (2010) (PMID: 20066439) identified 3 individuals with deletions involving LSS - one deletion of LSS alone, and two other deletions involving both LSS and TMEM1. The individual with the deletion of LSS alone showed no signs of HPE on MRI examination. The others, with the larger deletions involving TMEM1, did show a microform form of HPE.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000021.8) (NC_000021.9)