ABHD10

Chr 3

abhydrolase domain containing 10, depalmitoylase

NCBI Gene: 55347 ENSG00000144827 UniProt: Q9NUJ1 OMIM: 618756

The protein functions as a mitochondrial acyl-protein thioesterase that removes fatty acids from acylated protein residues and regulates antioxidant activity by depalmitoylating peroxiredoxin-5. Currently, no Mendelian diseases have been definitively associated with ABHD10 mutations. The gene shows tolerance to loss-of-function variants, suggesting haploinsufficiency may not cause disease.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.06

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.06LOEUF

pLI 0.000

Z-score 1.39

OE 0.63 (0.39–1.06)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.23Z-score

OE missense 0.95 (0.83–1.08)

163 obs / 171.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.63 (0.39–1.06)

0≤0.351.4

Missense OE?0.95 (0.83–1.08)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 10 / 16.0Missense obs/exp: 163 / 171.6Syn Z: -0.25

Background carrier burden — how many people carry a rare variant somewhere in ABHD10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

391 rare PASS variants

Rare truncating (LoF)

1 in 1,100

58 rare PASS variants

Rare synonymous (reference)

1 in 230

157 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ABHD10. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 250	1 in 2,100
South Asian	~43k	1 in 100	1 in 860
Remaining (unassigned)	~30k	1 in 130	1 in 1,000
European (Finnish)	~27k	1 in 260	≈ 1 in 26,000
Admixed American	~22k	1 in 160	1 in 440
African / African American	~21k	1 in 100	1 in 940
East Asian	~20k	1 in 180	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 620	none seen
Middle Eastern	~2,884	1 in 120	≈ 1 in 870

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓