The ABCA12 gene homepage

General information
Gene symbol ABCA12
Gene name ATP-binding cassette, sub-family A (ABC1), member 12
Chromosome 2
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_007074.1
Transcript reference NM_173076.2
Exon/intron information NM_173076.2 exon/intron table
Associated with diseases ARCI4A, ARCI4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 144
Unique public DNA variants reported 107
Individuals with public variants 92
Hidden variants 5
Date created May 03, 2013
Date last updated July 07, 2023
Version ABCA12:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_173076.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 14637
Entrez Gene 26154
PubMed articles ABCA12
OMIM - Gene 607800
OMIM - Diseases ARCI4A (ichthyosis, congenital, autosomal recessive, type 4A (ARCI-4A))
ARCI4B (ichthyosis, congenital, autosomal recessive, type 4B (ARCI-4B, harlequin))
Orphanet ABCA12

Active transcripts




NCBI ID     

NCBI Protein ID     

00001855 2 transcript variant 1 NM_173076.2 NP_775099.2 144

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.