AP4M1 - adaptor related protein complex 4 subunit mu 1 Gene

Homo sapiens

Also known as MU-4; CPSQ3; SPG50; MU-ARP2

Gene ID: 9179 | Gene type: protein coding

About AP4M1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,100,794-100,109,039 (from NCBI)

This gene has 17 transcripts (splice variants), 189 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.8), endometrium (RPKM 6.9) and 25 other tissues.

Summary

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

AP4M1 Products(2)

mRNA	Protein	Name
NM_001363671.2	NP_001350600.1	AP-4 complex subunit mu-1 isoform 2
NM_004722.4	NP_004713.2	AP-4 complex subunit mu-1 isoform 1

AP4M1 Protein Structure

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
400
453 a.a.

Protein Preferred Names

Protein Names

AP-4 complex subunit mu-1

AP-4 adaptor complex mu subunit

Related Diseases

Diseases

Alias

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

Spastic Paraplegia 51, Autosomal Recessive

SPG51	Spastic Paraplegia 51
Ap4 Deficiency Syndrome	Cpsq4
Cerebral Palsy, Spastic Quadriplegic, 4	Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral Palsy, Spastic Quadriplegic, 4, Formerly	Cpsq4, Formerly
Autosomal Recessive Spastic Paraplegia 51	Cerebral Palsy, Spastic Quadriplegic 4

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Non-Syndromic X-Linked Intellectual Disability 46

Mrx46

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 47, Autosomal Recessive

Hereditary Spastic Paraplegia 47	SPG47
Cpsq5	Cerebral Palsy, Spastic Quadriplegic, 5, Formerly
Cpsq5, Formerly	Autosomal Recessive Spastic Paraplegia 47
Spastic Quadriplegic Cerebral Palsy 5	Cerebral Palsy, Spastic Quadriplegic 5

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Hermansky-Pudlak Syndrome 2

HPS2	Hermansky Pudlak Syndrome 2
Platelet Defects And Oculocutaneous Albinism	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 2
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Spastic Paraplegia 53, Autosomal Recessive

SPG53	Hereditary Spastic Paraplegia 53
Autosomal Recessive Spastic Paraplegia Type 53	Autosomal Recessive Spastic Paraplegia 53
Paraplegia, Spastic, Type 53, Autosomal Recessive

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Multiple Personality Disorder

Dissociative Identity Disorder

Multiple Personality

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

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-RS00798	AP4M1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AP4M1	VGNC	VGNC:37970
Macaca mulatta	AP4M1	VGNC	VGNC:69974
Felis catus	AP4M1	VGNC	VGNC:67732
Bos taurus	AP4M1	VGNC	VGNC:25993
Mus musculus	AP4M1	MGD	MGI:1337063
Rattus norvegicus	AP4M1	RGD	RGD:1310233

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