BLOC1S4

Chr 4

biogenesis of lysosomal organelles complex 1 subunit 4

Also known as: BCAS4L, BLOS4, CNO

NCBI Gene: 55330ENSG00000186222UniProt: Q9NUP1OMIM: 605695

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.102
Z-score 0.17
OE 0.83 (0.24–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.05Z-score
OE missense 0.98 (0.83–1.17)
91 obs / 92.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.24–1.87)
0≤0.351.4
Missense OE?0.98 (0.83–1.17)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 1 / 1.2Missense obs/exp: 91 / 92.5Syn Z: -0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BLOC1S4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients