AAGAB - alpha and gamma adaptin binding protein Gene

Homo sapiens

Also known as p34; KPPP1; PPKP1; PPKP1A

Gene ID: 79719 | Gene type: protein coding

About AAGAB

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:67,200,667-67,255,198 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.8), colon (RPKM 11.4) and 25 other tissues.

Summary

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]

AAGAB Products(3)

mRNA	Protein	Name
NM_001271885.2	NP_001258814.1	alpha- and gamma-adaptin-binding protein p34 isoform 2
NM_001271886.2	NP_001258815.1	alpha- and gamma-adaptin-binding protein p34 isoform 2
NM_024666.5	NP_078942.3	alpha- and gamma-adaptin-binding protein p34 isoform 1

AAGAB Protein Structure

Adaptin_binding

0
100
200
315 a.a.

Protein Preferred Names

Protein Names

alpha- and gamma-adaptin-binding protein p34

Related Diseases

Diseases

Alias

Palmoplantar Keratoderma, Punctate Type Ia

Keratosis Palmoplantaris Papulosa	Punctate Palmoplantar Keratoderma Type I
Ppkp1	Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type
PPKP1A	Kppp1
Punctate Palmoplantar Keratoderma Type 1	Palmoplantar Keratoderma, Punctate Type 1a
Palmoplantar Keratoderma, Punctate Type I	Keratoderma, Palmoplantar, Punctate Type Ia
Punctate Palmoplantar Keratoderma Type 1a	Punctate Palmoplantar Keratoderma Type 1b
Brauer-Buschke-Fischer Syndrome	Keratoderma, Palmoplantar Punctate Type 1
Type I Punctate Palmoplantar Keratoderma	Buschke-Fischer-Brauer Syndrome
Keratoderma, Palmoplantar, Punctate 1a	Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type
Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type	Punctate Palmoplantar Keratoderma Type Ia
Keratoderma, Palmoplantar, Punctate Type 1	Keratoderma, Palmoplantar, Punctate, Type Ia

Punctate Palmoplantar Keratoderma

Punctate Palmoplantar Hyperkeratosis	Punctate Keratosis Palmoplantaris
Punctate Ppk

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Palmoplantar Keratoderma, Punctate Type Ii

PPKP2	Porokeratosis Punctata Palmaris Et Plantaris
Pppp	Punctate Palmoplantar Keratoderma Type 2
Punctate Palmoplantar Keratoderma Type Ii	Punctate Palmoplantar Hyperkeratosis Type 2
Keratoderma Palmoplantar, Punctate Type 2	Type 2 Punctate Ppk
Keratoderma, Palmoplantar, Punctate Type Ii	Porokeratosis, Palmoplantar

Plantar Wart

Verruca Plantaris	Verrucae On Sole Of Foot
Mosaic Plantar Warts

Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50	SPG50
Ap-4 Deficiency Syndrome	Ap-4-Associated Hereditary Spastic Paraplegia
Adaptor Protein Complex 4 Deficiency	Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
Cpsq3, Formerly	Autosomal Recessive Spastic Paraplegia 50
Cpsq3	Spastic Quadriplegic Cerebral Palsy 3
Ap-4 Deficiency	Ap-4-Associated Hsp
Paraplegia, Spastic, Autosomal Recessive, Type 50	Spastic Paraplegia-50, Autosomal Recessive

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome	CEDNIK
Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome	Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma	Neurocutaneous Syndromes

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00019	AAGAB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AAGAB	VGNC	VGNC:37409
Bos taurus	AAGAB	VGNC	VGNC:25442
Mus musculus	AAGAB	MGD	MGI:1914189
Macaca mulatta	AAGAB	VGNC	VGNC:107990
Felis catus	AAGAB	VGNC	VGNC:59450
Rattus norvegicus	AAGAB	RGD	RGD:621601

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