LSS lanosterol synthase

Gene ID: 4047, updated on 5-Mar-2024
Gene type: protein coding
Also known as: OSC; APMR4; HYPT14; CTRCT44

Summary

The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Alopecia-intellectual disability syndrome 4 MedGen: C5394241OMIM: 618840GeneReviews: Not available	See labs
Cataract 44 MedGen: C4225300OMIM: 616509GeneReviews: Not available	See labs
Hypotrichosis 14 MedGen: C4748930OMIM: 618275GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page

Genomic context

Location:: 21q22.3

Sequence:: Chromosome: 21; NC_000021.9 (46188446..46228774, complement)

Total number of exons:: 22

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for LSS variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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