ABCA12 - ATP binding cassette subfamily A member 12 Gene

Homo sapiens

Also known as LI2; ICR2B; ARCI4A; ARCI4B

Gene ID: 26154 | Gene type: protein coding

About ABCA12

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:214,931,542-215,138,626 (from NCBI)

This gene has 3 transcripts (splice variants), 217 orthologues, 11 paralogues and is associated with 6 phenotypes. Biased expression in skin (RPKM 10.7) and colon (RPKM 0.6).

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

ABCA12 Products(2)

mRNA	Protein	Name
NM_015657.4	NP_056472.2	glucosylceramide transporter ABCA12 isoform b
NM_173076.3	NP_775099.2	glucosylceramide transporter ABCA12 isoform a

ABCA12 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
400
800
1200
1600
2000
2400
2595 a.a.

Protein Preferred Names

Protein Names

glucosylceramide transporter ABCA12

ATP-binding cassette transporter 12

Related Diseases

Diseases

Alias

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis	Autosomal Recessive Congenital Ichthyosis 4b
Hi	Harlequin Fetus
ARCI4B	Ichthyosis Congenita, Harlequin Fetus Type
Harlequin Type Ichthyosis	'Harlequin Fetus'
Harlequin Type Ichthyosis Congenita	Harlequin Type Ichthyosis Fetalis
Harlequin Baby Syndrome	Ichthyosis Congenita, Harlequin Type
Ichthyosis Fetalis, Harlequin Type	Ichthyosis Congenita Harlequin Fetus Type
Ichthyosis, Harlequin	Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib	Icr2b
Autosomal Recessive Congenital Ichthyosis 4a	ARCI4A
Lamellar Ichthyosis 2	Li2
Ichthyosis, Lamellar, 2, Formerly	Li2, Formerly
Ichthyosis Lamellar 2	Lamellar Ichthyosis, Type 2
Ichthyosis, Lamellar 2	Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Ectropion

Ectropion Of Eyelid	Everted Margin
Eversion Of The Eyelid	Eyelashes Turned Out
Eyelid Everted	Eyelid Turned Out
Unspecified Ectropion Of Unspecified Eye

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma	Bullous Ichthyosiform Erythroderma
EHK	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
Bcie	Bie
Epidermolytic Ichthyosis	Ichthyosis Bullosa Of Siemens
Superficial Epidermolytic Ichthyosis	Hyperkeratosis, Epidermolytic
Congenital Bullous Ichthyosiform Erythroderma	Bullous Type Ichthyosis
Epidermolytic Palmoplantar Hyperkeratosis	Bullous Ichthyosiform Erythroderma Congenita
Bullous Erythroderma Ichthyosiforme	Sei
Epidermolytic Hyperkeratosis Late-Onset	Epidermolytic Hyperkeratosis, Late-Onset

Esophageal Basaloid Squamous Cell Carcinoma

Basaloid Squamous Carcinoma Of Esophagus

Esophageal Basaloid Carcinoma

Ichthyosis, Congenital, Autosomal Recessive 1

Collodion Fetus	Autosomal Recessive Congenital Ichthyosis 1
ARCI1	Ichthyosis Congenita
Lamellar Exfoliation Of Newborn	Desquamation Of Newborn
Ichthyosis Congenita Ii	Shcb
Icr2	Bathing Suit Ichthyosis
Li1	Self-Healing Collodion Baby
Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution	Collodion Baby, Self-Healing
Ichthyosis, Lamellar, 1, Formerly	Li1, Formerly
Ichthyosis Lamellar 1	Lamellar Ichthyosis, Type 1
Bsi	Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution
Autosomal Recessive Congenital Ichthyosis Tgm1-Related	Lamellar Ichthyosis 1
Non-Erythrodermic Ichthyosis	Ichthyosis, Congenital, Autosomal Recessive, Type 1
Congenital Ichthyosis

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD	Charcot-Marie-Tooth Neuropathy, Type 2dd
Charcot-Marie-Tooth Disease Type 2dd	Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Atp1a1-Related Cmt2	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd
Charcot-Marie-Tooth Disease 2dd

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome	Cdpx2
Conradi-Hünermann Syndrome	Chondrodysplasia Punctata 2, X-Linked
X-Linked Dominant Chondrodysplasia Punctata	Conradi-Hunermann Syndrome
Conradi-Hünermann-Happle Syndrome	Cdpxd
Cpxd	Chondrodystrophia Calcificans Congenita
Conradi-Hunermann-Happle Syndrome	X-Linked Chondrodysplasia Punctata Type 2
Chondrodysplasia Punctata, X-Linked Dominant Type

Trichothiodystrophy 1, Photosensitive

TTD1	Tay Syndrome
Trichothiodystrophy With Congenital Ichthyosis	Photosensitive Trichothiodystrophy
Ibids Syndrome	Ttdp
Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation	Ichthyosis, Congenital, With Trichothiodystrophy
Pibids Syndrome	Photosensitive Trichothiodystrophy 1
Trichothiodystrophy, Photosensitive	Sulfur-Deficient Brittle Hair Syndrome
Ttd-P	Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature
Trichothiodystrophy Photosensitive	Trichothiodystrophy, Type 1
Tricho-Thiodystrophy Disorder	Trichothiodystrophy Syndromes
Amish Brittle Hair Brain Syndrome

Ichthyosis, Congenital, Autosomal Recessive 7

ARCI7

Autosomal Recessive Congenital Ichthyosis 7

Cicatricial Ectropion

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome	Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Child Nevus	Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects	Ichthyosis, Child Syndrome
Child Syndrome Ichthyosis	CHILD

Hypolipoproteinemia

Hypolipoproteinaemia	Lipoprotein Deficiencies
Lipoprotein Disorder	Hypolipoproteinemias
Lipoprotein	Lipoprotein Deficiency
Hypolipidaemia	Lipoprotein Deficiency Disorder
High-Density Lipoid Deficiency	High-Density Lipoprotein Deficiency
Dyslipidaemia, Depressed Hdl Cholesterol

Tangier Disease

Analphalipoproteinemia	High Density Lipoprotein Deficiency, Tangier Type
TGD	High Density Lipoprotein Deficiency, Type 1
Hdldt1	Familial High Density Lipoprotein Deficiency
A-Alphalipoprotein Neuropathy	Alpha High Density Lipoprotein Deficiency Disease
Cholesterol Thesaurismosis	Familial High Density Lipoprotein Deficiency Disease
Hdl Lipoprotein Deficiency Disease	Tangier Disease Neuropathy
Familial Alpha-Lipoprotein Deficiency	Familial High-Density Lipoprotein Deficiency 1
Primary Hypoalphalipoproteinemia 1	Analphalipo-Proteinemia
Familial Hypoalphalipo-Proteinemia	Familial Hypoalphalipoproteinemia
Lipoprotein Deficiency Disease, Hdl, Familial	Tangier Hereditary Neuropathy
Atp-Binding Cassette Transporter A1 Deficiency	Hdld1
High Density Lipoprotein Deficiency 1	Tangier Disease, Variant
Hypoalphalipoproteinemia, Familial	Familial Hdl Deficiency

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

Physical Disorder

Physical Illness

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-RS00039	ABCA12 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCA12	VGNC	VGNC:69401
Canis familiaris	ABCA12	VGNC	VGNC:37423
Bos taurus	ABCA12	VGNC	VGNC:25456
Rattus norvegicus	ABCA12	RGD	RGD:1304586
Felis catus	ABCA12	VGNC	VGNC:59462
Mus musculus	ABCA12	MGD	MGI:2676312

Name
Email *

	Sorry, but the email address you supplied was invalid.