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MT000939

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family A (ABC1), member 12
Protein Entry	ABCAC_HUMAN
UniProt ID	Q86UK0
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q86UK0-1; Sequence=Displayed; Name=2; IsoId=Q86UK0-2; Sequence=VSP_011283, VSP_011284; Note=No experimental confirmation available.;
Disease	Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269\|PubMed:12915478, ECO:0000269\|PubMed:17508018, ECO:0000269\|PubMed:18284401, ECO:0000269\|PubMed:19262603, ECO:0000269\|PubMed:22257947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]: A rare, very severe form of congenital ichthyosis, 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. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. {ECO:0000269\|PubMed:15756637, ECO:0000269\|PubMed:16675967, ECO:0000269\|PubMed:16902423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain. {ECO:0000250}.
Function	Probable transporter involved in lipid homeostasis.
Interaction	O95477:ABCA1; NbExp=4; IntAct=EBI-9541582, EBI-784112;
Sequence Caution	Sequence=AAN40735.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the ABC transporter superfamily. ABCA family. {ECO:0000305}.
Similarity	Contains 2 ABC transporter domains. {ECO:0000255\|PROSITE-ProRule:PRU00434}.
Subcellular Location	Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue Specificity	Mainly expressed in the stomach, placenta, testis and fetal brain. {ECO:0000269\|PubMed:12697999}.
Web Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UK0";