AAGAB

Chr 15AD

alpha and gamma adaptin binding protein

Also known as: KPPP1, PPKP1, PPKP1A, p34

NCBI Gene: 79719 ENSG00000103591 UniProt: Q6PD74 OMIM: 614888

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Keratoderma, palmoplantar, punctate type IAMIM #148600

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Keratoderma, palmoplantar, punctate type IA; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 88

477 rare PASS variants

Rare truncating (LoF)

1 in 1,200

103 rare PASS variants

Rare synonymous (reference)

1 in 220

139 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AAGAB. 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 110	1 in 1,100
South Asian	~43k	1 in 110	1 in 3,900
Remaining (unassigned)	~30k	1 in 94	1 in 1,500
European (Finnish)	~27k	1 in 380	1 in 2,400
Admixed American	~22k	1 in 110	1 in 1,200
African / African American	~21k	1 in 120	1 in 500
East Asian	~20k	1 in 130	1 in 1,100
Ashkenazi Jewish	~13k	1 in 520	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 130	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.