ABCA12

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.wikipedia
25 Related Articles

ATP-binding cassette transporter

ABC transporterATP-binding cassetteABC transporters
ABCA12 belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes.
These are ABCA1, ABCA2, ABCA3, and ABCA4, ABCA7, ABCA12, and ABCA13.

Harlequin-type ichthyosis

Harlequin type ichthyosisHarlequin ichthyosisIchthyosis congenita
Several mutations in the ABCA12 gene are known to cause harlequin-type ichthyosis.
Harlequin-type ichthyosis is due to mutations of the ABCA12 genes.

Lamellar ichthyosis

ichthyosis, lamellarLIPNCollodion baby
Mutations in the ABCA12 gene also cause another severe skin disorder, lamellar ichthyosis type 2.

Protein

proteinsproteinaceousstructural proteins
ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

Gene

genesnumber of genesgene sequence
ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

Cell membrane

plasma membranemembranecell membranes
ABCA12 belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes.

Testicle

testestestistesticles
The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver.

Placenta

placental barrierchorioallantoic placentaafterbirth
The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver.

Lung

lungspulmonaryright lung
The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver.

Stomach

gastriccardiafundus
The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver.

Skin

cutaneousskin cellanimal skin
The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver.

Glucocerebroside

glucosylceramideglucosylceramidesglycosylceramidase
It transports epidermoside, a glucosylceramide, out of the keratinocytes of the stratum corneum of the epidermis.

Stratum corneum

horny layercornified layerepidermal permeability barrier
It transports epidermoside, a glucosylceramide, out of the keratinocytes of the stratum corneum of the epidermis.

Epidermis

epidermalepidermal cellsepidermal layer
It transports epidermoside, a glucosylceramide, out of the keratinocytes of the stratum corneum of the epidermis.

Chromosome 2

2human chromosome 2Chromosome 2 (human)
The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.

Base pair

base pairsbpMbp
The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.

Mutation

mutationsgenetic mutationmutated
Several mutations in the ABCA12 gene are known to cause harlequin-type ichthyosis.

Amino acid

amino acidsresiduesresidue
The ABCA12 mutations that cause this disorder substitute one amino acid (a building block of proteins) for another amino acid in the ABCA12 protein.

Adenosine triphosphate

ATPadenosine triphosphate (ATP)adenosine 5'-triphosphate
These mutations almost always occur in an important functional region of the protein (the region that binds to ATP, a molecule that supplies energy for chemical reactions).