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ABCA13 Gene

protein-coding GIFtS: 47

GC07P048208

ATP-binding cassette, sub-family A (ABC1), member 13
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
DKFZp313D2411 ^²
FLJ16398 ^²
FLJ33876 ^¹, ²
FLJ33951 ^¹, ²

Descriptions
ATP binding cassette transporter A13 ^²
ATP binding cassette, sub-family A (ABC1), member 13 ^²
ATP-binding cassette, sub-family A (ABC1), member 13 ^²
ATP-binding cassette, sub-family A, member 13 ^¹

External Ids
HGNC: 14638¹
Entrez Gene: 154664²
UniProtKB: Q86UQ4³
Ensembl: ENSG00000179869⁷

Search outside databases for aliases for ABCA13 gene

Previous GC identifers: GC07P048023 GC07P047982 GC07P048015

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCA13:

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes

and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the

ABCA family typically encode several thousand amino acids. Like other ABC transmembrane

transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely

arrange to form a single central chamber with multiple substrate binding sites. It is also

predicted to have two large extracellular domains and two nucleotide binding domains as is typical

for ABCA proteins. Alternative splice variants have been described but their biological validity

has not been demonstrated.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCA13 gene

Entrez Gene cytogenetic band: 7p12.3 Ensembl cytogenetic band: 7p12.3 HGNC cytogenetic band: 7p12.3

ABCA13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P048208: (about GC identifiers)

Start:	48,208,389 bp from pter
End:	48,657,637 bp from pter
Size:	449,249 bases
Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 48,250,847-48,729,205

RefSeq DNA sequence:

NC_000007.12 NT_030008.6 NT_079592.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ABCAD_HUMAN, Q86UQ4 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family A member 13

Size: 5058 amino acids; 576239 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=BAC86492.1; Type=Erroneous termination; Positions=123; Note=Translated

as Glu; Sequence=BAC86492.1; Type=Frameshift; Positions=156;

Secondary accessions: Q6ZTT7 Q86WI2 Q8N248

Alternative splicing: 3 isoforms: Q86UQ4-1 Q86UQ4-2 Q86UQ4-3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_689914.2

ENSEMBL proteins:

ENSP00000321973

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

About this table

Antibodies for ABCA13:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for ABCA13

Assays for ABCA13:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q86UQ4

ProtoNet protein and cluster: Q86UQ4

UniProtKB/Swiss-Prot: ABCAD_HUMAN, Q86UQ4

Similarity: Belongs to the ABC transporter family

Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCA13)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCA13)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152701

Applied Biosystems Silencer® siRNAs for ABCA13

Sigma-Aldrich siRNA and siRNA Panels for ABCA13

Sigma-Aldrich shRNA for ABCA13

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_152701
Myc/DDK tagged cDNA clone in CMV expression vector: NM_152701
untagged cDNA clone in CMV expression vector: NM_152701

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_152701

1 MGI phenotypic allele

for Abca13 (no phenotypes)

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCA13

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCA13)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCA13)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152701

Sigma-Aldrich siRNA and siRNA Panels for ABCA13

Sigma-Aldrich shRNA for ABCA13

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_152701

REFSEQ mRNAs for ABCA13 gene:

NM_152701.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_152701

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_152701
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_152701
                                 untagged cDNA clone in CMV expression vector: NM_152701

Additional cDNA sequence:

AF501281.1 AK091195.1 AK091270.1 AK126220.1 AK128516.1 AK128570.1 AK131360.1 AY204751.1

BC062666.1 BX647560.1

6 DOTS entries:

DT.95268715 DT.101980180 DT.95112898 DT.101963293 DT.100008078 DT.101971841

24/37 AceView cDNA sequences (see all 37 ):

BC062666 AF501281 CD637938 BX644621 NM_152701 AW468640 AK128570 CD637949

AK128516 AY204751 CD637940 AK091270 CD637947 AK131360 CD637941 BG564949

BF904115 AX746886 AI732440 CD637945 AI733755 CD637955 BI026273 BI026274

highest scoring ESTs for ABCA13:

AI732440 AA055611 AF501281 AK091270 AK128516 AW468640 AY204751 AA055871 AI733755 AK126220

Unigene Cluster for ABCA13:

ATP-binding cassette, sub-family A (ABC1), member 13

Hs.226568 [show with all ESTs]

Unigene Representative Sequence: AY204751

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000319379

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ABCA13 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCA13

¹ / ² / ³

4 probe-sets matching ABCA13 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
64634_at²^{, 3}	U95-C	1	1.00	1.00	1.00	1.00	AI732440	1.00	1.00	1.00	1
1553605_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1553604_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1553295_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ABCA13 for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGATTTACTT

SOURCE GeneReport for Unigene cluster: Hs.226568
UniProtKB/Swiss-Prot: ABCAD_HUMAN, Q86UQ4
Tissue specificity: Expressed in testis, bone marrow and trachea

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCA13 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCA13¹	--	ATP-binding cassette, sub-family A (ABC1), member 13	73.51(n) 69.33(a)	606966 XM_843462.1 XP_848555.1
chimpanzee (Pan troglodytes)	ABCA13¹	--	ATP-binding cassette, sub-family A (ABC1), member 13	98.25(n) 97.16(a)	463404 XM_519092.2 XP_519092.2
cow (Bos taurus)	ABCA13¹	--	ATP-binding cassette, sub-family A (ABC1), member 13	76.92(n) 67.41(a)	522756 XM_601044.3 XP_601044.3
rat (Rattus norvegicus)	Abca13¹	--	ATP-binding cassette, sub-family A (ABC1), member 13	75.5(n) 65.74(a)	289797 XM_223625.4 XP_223625.4
mouse (Mus musculus)	Abca13^{1, 5}	11⁵	ATP-binding cassette, sub-family A (ABC1), member 13^{1, 5}	76.19(n)¹ 66.31(a)¹	268379¹ NM_178259.3¹ NP_839990.2¹ AI956815⁵ AK036546⁵ (see all 11)

About this table Species with no ortholog for ABCA13

ENSEMBL Gene Tree for ABCA13

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ABCA13 gene

ABCA12² ABCA2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/2589 NCBI SNPs in ABCA13 are shown (see all 2589 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 696)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1880738^1,2	A,C,F,H,O	48256031(+)	`CTGCCC/TGAATG`	1	P/L	mis¹ ese³		12	EA NA EU WA	1054
	rs4917152^1,2	A,C,F,H	48477112(+)	`GCGACA/GACTTG`	1	N/D	mis¹ ese³		12	EA NA EU WA	1054
	rs2222648^1,2	A,C,F,H	48289357(-)	`TTCCCA/GTAAGT`	1	R/W	mis¹ ese³		8	EU EA WA	838
	rs2188^1,2	C,F,H,O	48208357(+)	`GTATAC/TGGACT`	1	--	ng5¹		6	MN EU EA WA	612
	rs1880736^1,2	A,C,F,H	48286342(-)	`TGCCTT/GCTCTA`	1	E/A	mis¹ ese³		12	MN EU EA WA NA	1164
	rs4917153^1,2	A,C,F,H	48477188(+)	`ACGCCA/GGTAAG`	1	Q/R	mis¹		12	EA NA EU WA	1054
	rs6955686^1,2	A,C,F,H	48657146(+)	`GTTTCC/AAGTCA`	1	--	ut3¹ ese³		4	EU EA WA	418
	rs3923511^1,2	A,C,F,H	48656578(+)	`TCCAAA/GTTAAG`	1	--	ut3¹ ese³		17	NS EU EA WA NA	1132
	rs17661364^1,2	C,F,H	48285906(+)	`ATGCAA/GATGTC`	1	N/D	mis¹ ese³		11	NA EU EA WA	982
	rs17132195^1,2	C,F,H	48284109(+)	`ACTCTA/GTATTA`	1	I/V	mis¹ ese³		11	NA EU EA WA	978

About this table

HapMap Linkage Disequilibrium images for ABCA13 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 607807

Human Genome Epidemiology Navigator: ABCA13 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

4 PubMed articles for ABCA13 gene:

The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. (PubMed id 12697998)^{2, 3, 4} Prades C.... Dean M. (2002)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)³ de Krom M....van Ree J.M. (2009)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 154664	HGNC: 14638	AceView: ABCA13	Ensembl:ENSG00000179869	euGenes: HUgn154664
ECgene: ABCA13	H-InvDB: ABCA13

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for ABCA13
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ABCA13:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ABCA13-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ABCA13		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ABCA13		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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Search OriGene for ABCA13

Search Tocris compounds for ABCA13

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for ABCA13

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ABCA13 Gene

protein-coding GIFtS: 47

Aliases &
Descriptions
for ABCA13

Summaries
for ABCA13

Genomic Location
for ABCA13

Proteins
for ABCA13

Protein Domains/
Families
for ABCA13

Gene Function
for ABCA13

Pathways & Interactions
for ABCA13

Drugs & Compounds
for ABCA13

Transcripts
for ABCA13

Expression
for ABCA13

Orthologs
for ABCA13

Paralogs
for ABCA13

SNPs/Variants
for ABCA13

Disorders & Mutations
for ABCA13

Medical News
for ABCA13

Publications
for ABCA13

Search for ABCA13

Genome Databases showing ABCA13

Other Databases showing ABCA13

Specialized Databases showing ABCA13

Licensable Technologies
for ABCA13

Services
for ABCA13

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCA13 Gene

protein-coding GIFtS: 47

Aliases & Descriptionsfor ABCA13

Summariesfor ABCA13

Genomic Locationfor ABCA13

Proteinsfor ABCA13

Protein Domains/Familiesfor ABCA13

Gene Functionfor ABCA13

Pathways & Interactionsfor ABCA13

Drugs & Compoundsfor ABCA13

Transcriptsfor ABCA13

Expression for ABCA13

Orthologsfor ABCA13

Paralogsfor ABCA13

SNPs/Variantsfor ABCA13

Disorders & Mutationsfor ABCA13

Medical Newsfor ABCA13

Publicationsfor ABCA13

Search for ABCA13

Genome Databases showing ABCA13

Other Databases showing ABCA13

Specialized Databases showing ABCA13

Licensable Technologiesfor ABCA13

Servicesfor ABCA13

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCA13

Summaries
for ABCA13

Genomic Location
for ABCA13

Proteins
for ABCA13

Protein Domains/
Families
for ABCA13

Gene Function
for ABCA13

Pathways & Interactions
for ABCA13

Drugs & Compounds
for ABCA13

Transcripts
for ABCA13

Expression
for ABCA13

Orthologs
for ABCA13

Paralogs
for ABCA13

SNPs/Variants
for ABCA13

Disorders & Mutations
for ABCA13

Medical News
for ABCA13

Publications
for ABCA13

Licensable Technologies
for ABCA13

Services
for ABCA13