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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)