LTAP1

Chr 1

lipid transport auxiliary protein 1

Also known as: C1orf43, HSPC012, NICE-3, NICE3, NS5ATP4, S863-3

NCBI Gene: 25912 ENSG00000143612 UniProt: Q9BWL3 OMIM: 617428

Involved in phagocytosis. Located in Golgi apparatus; endoplasmic reticulum-plasma membrane contact site; and mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Involved in phagocytosis. Located in Golgi apparatus; endoplasmic reticulum-plasma membrane contact site; and mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in LTAP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 270

317 rare PASS variants

Rare truncating (LoF)

1 in 3,500

47 rare PASS variants

Rare synonymous (reference)

1 in 420

135 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LTAP1. 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 280	1 in 3,900
South Asian	~43k	1 in 160	1 in 1,400
Remaining (unassigned)	~30k	1 in 270	1 in 4,300
European (Finnish)	~27k	1 in 760	1 in 5,300
Admixed American	~22k	1 in 350	≈ 1 in 7,500
African / African American	~21k	1 in 210	1 in 1,700
East Asian	~20k	1 in 350	≈ 1 in 5,000
Ashkenazi Jewish	~13k	≈ 1 in 3,300	none seen
Middle Eastern	~2,884	1 in 150	none seen

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 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓