ACRBP

Chr 12

acrosin binding protein

Also known as: CT23, OY-TES-1, SP32

The acrosomal protein binds to and maintains proacrosin as an inactive zymogen in sperm acrosomes and is involved in acrosome formation. This gene is extremely tolerant to loss-of-function variants in the general population, and no Mendelian diseases have been definitively associated with ACRBP mutations in current medical literature.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.93
LOEUF
Mechanism
Clinical SummaryACRBP
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.93LOEUF
pLI 0.000
Z-score 1.85
OE 0.64 (0.450.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.73Z-score
OE missense 0.88 (0.800.98)
278 obs / 314.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.64 (0.450.93)
00.351.4
Missense OE0.88 (0.800.98)
00.61.4
Synonymous OE0.96
01.21.6
LoF obs/exp: 20 / 31.1Missense obs/exp: 278 / 314.7Syn Z: 0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACRBP · 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

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗