CHLSN

Chr 7

cholesin

Also known as: C7orf50, YCR016W

NCBI Gene: 84310 ENSG00000146540 UniProt: Q9BRJ6 OMIM: 621174

The protein is a hormone secreted from the intestine that inhibits cholesterol synthesis in the liver and reduces circulating cholesterol levels by binding to its receptor GPR146. Mutations cause autosomal recessive hypercholesterolemia, presenting with elevated cholesterol levels and associated cardiovascular complications. This represents a rare genetic form of hypercholesterolemia affecting cholesterol homeostasis through disrupted intestinal hormone signaling.

OMIM ResearchSummary from RefSeq, UniProt

Enables hormone activity. Involved in negative regulation of cholesterol biosynthetic process. Is active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical Summary— CHLSN

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ClinVar Variants

176 VUS of 217 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

217 submitted variants in ClinVar

ClinVar

Classification Summary

VUS176

Likely Benign17

Benign6

176

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	176	0	176
Likely Benign	12	5	17
Benign	2	4	6
Total	190	9	199

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

40 pathogenic / likely-pathogenic (of 51) ClinVar copy-number / structural variants overlap CHLSN — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →