功能： alternative products:Additional isoforms seem to exist,disease:Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as harlequin fetus. HI is a very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period.,disease:Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]; also known as ichthyosis congenita IIB (ICR2B). LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections.,domain:Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.,function:Probable transporter involved in lipid homeostasis.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Mainly expressed in the stomach, placenta, testis and fetal brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasmic vesicle, secretory vesicle membrane ; Multi-pass membrane protein . Golgi apparatus membrane . Localizes in the limiting membrane of the lamellar granules (LGs) (PubMed:17927575). Trafficks from the Golgi apparatus to the lamellar granules (LGs) at the cell periphery in the uppermost granular layer keratinocytes where ABCA12-positive LGs fuse with the keratinocyte-cell membrane to secrete their lipid content to the extracellular space of the stratum corneum (PubMed:16007253, PubMed:17927575). Co-localizes through the Golgi apparatus to the cell periphery with glucosylceramide (PubMed:17927575). .
组织表达： Mainly expressed in the stomach, placenta, testis and fetal brain (PubMed:12697999). Expressed in the upper epidermal layers, mainly the granular layers, of skin (PubMed:16007253, PubMed:17591952, PubMed:17927575). Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum (PubMed:19179616). Expressed in alpha and beta cells of pancreatic islets (PubMed:32072744).
科研货号： PLA006331
ABCAC Polyclonal Antibody
Catalog NoPLA006331
Product information
基因名称： ABCA12 ABC12
蛋白名称： ATP-binding cassette sub-family A member 12 (ATP-binding cassette transporter 12) (ATP-binding cassette 12)
功能： alternative products:Additional isoforms seem to exist,disease:Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as harlequin fetus. HI is a very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period.,disease:Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]; also known as ichthyosis congenita IIB (ICR2B). LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections.,domain:Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.,function:Probable transporter involved in lipid homeostasis.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Mainly expressed in the stomach, placenta, testis and fetal brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasmic vesicle, secretory vesicle membrane ; Multi-pass membrane protein . Golgi apparatus membrane . Localizes in the limiting membrane of the lamellar granules (LGs) (PubMed:17927575). Trafficks from the Golgi apparatus to the lamellar granules (LGs) at the cell periphery in the uppermost granular layer keratinocytes where ABCA12-positive LGs fuse with the keratinocyte-cell membrane to secrete their lipid content to the extracellular space of the stratum corneum (PubMed:16007253, PubMed:17927575). Co-localizes through the Golgi apparatus to the cell periphery with glucosylceramide (PubMed:17927575). .
组织表达： Mainly expressed in the stomach, placenta, testis and fetal brain (PubMed:12697999). Expressed in the upper epidermal layers, mainly the granular layers, of skin (PubMed:16007253, PubMed:17591952, PubMed:17927575). Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum (PubMed:19179616). Expressed in alpha and beta cells of pancreatic islets (PubMed:32072744).
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