Gene Report
Basic Info
Approved Symbol |
ABCA12
|
Previous Symbol |
ICR2B |
Symbol Alias |
DKFZP434G232, LI2 |
Approved Name |
ATP-binding cassette, sub-family A (ABC1), member 12 |
Previous Name |
ichthyosis congenita II, lamellar ichthyosis B |
Location |
2q34 |
Position |
chr2:215796266-216003151, - |
External Links |
HGNC: 14637
Entrez Gene: 26154
Ensembl: ENSG00000144452
UCSC: uc002vew.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
Gene related GO terms (count: 13)
Gene related KEGG pathways (count: 1)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa02010 |
ABC transporters |
7 |
The ATP-binding cassette (ABC) transporters form one of the ......
The ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of a wide variety of substrates such as ions, sugars, lipids, sterols, peptides, proteins, and drugs. The structure of a prokaryotic ABC transporter usually consists of three components; typically two integral membrane proteins each having six transmembrane segments, two peripheral proteins that bind and hydrolyze ATP, and a periplasmic (or lipoprotein) substrate-binding protein. Many of the genes for the three components form operons as in fact observed in many bacterial and archaeal genomes. On the other hand, in a typical eukaryotic ABC transporter, the membrane spanning protein and the ATP-binding protein are fused, forming a multi-domain protein with the membrane-spanning domain (MSD) and the nucleotide-binding domain (NBD).
More...
|
Genes shared at least 5 GO terms with ABCA12 (count: 0)
Genes shared at least 2 KEGG pathways with ABCA12 (count: 0)
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