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FAHD1 Gene

protein-coding GIFtS: 46

GC16P001818

fumarylacetoacetate hydrolase domain containing 1
(Previous name: chromosome 16 open reading frame 36 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C16orf36)

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

Aliases
C16orf36 ^², ³
DKFZP566J2046 ^¹
DKFZp566J2046 ^²
EC 3.-.-.- ^³
MGC74876 ^²
YISK-like ^³
YISKL ^², ³

Descriptions
YISK like/RJD15 ^²
chromosome 16 open reading frame 36 ^¹
fumarylacetoacetate hydrolase domain containing 1 ^²

External Ids
HGNC: 14169¹
Entrez Gene: 81889²
UniProtKB: Q6P587³
Ensembl: ENSG00000180185⁷

Search outside databases for aliases for FAHD1 gene

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

UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587

Function: May have hydrolase activity

Gene Wiki entry for FAHD1

(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 FAHD1 gene

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

FAHD1 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 16 GeneLoc Exon Structure

GeneLoc location for GC16P001818: (about GC identifiers)

Start:	1,817,226 bp from pter
End:	1,830,173 bp from pter
Size:	12,948 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_037887.4

(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)
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UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587 (See protein sequence)

Recommended Name: Fumarylacetoacetate hydrolase domain-containing protein 1

Size: 224 amino acids; 24843 Da

Cofactor: Calcium (Probable)

Cofactor: Magnesium (Probable)

Subunit: Homodimer

PDB structures from and Proteopedia :

1SAW (3D)

Secondary accessions: B1AK41 Q6FIC7 Q96RY1 Q9H0N6

Alternative splicing: 2 isoforms: Q6P587-1 Q6P587-2

REFSEQ proteins (3 alternative transcripts):

NP_001018114.1 NP_001135870.1 NP_112485.1

ENSEMBL proteins:

ENSP00000314622 ENSP00000372114 ENSP00000372112

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
	Human Recombinant Proteins from Abnova (FAHD1)

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

Antibodies for FAHD1:

	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 FAHD1

Assays for FAHD1:

	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 Q6P587

ProtoNet protein and cluster: Q6P587

1 Blocks protein family: IPB002529 Fumarylacetoacetate (FAA) hydrolase

UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587

Similarity: Belongs to the FAH family

(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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAHD1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001018104

Applied Biosystems Silencer® siRNAs for FAHD1

Sigma-Aldrich siRNA for FAHD1

Sigma-Aldrich shRNA for FAHD1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for FAHD1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001018104
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001018104
untagged cDNA clones in CMV expression vector (see all 3): NM_001018104

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001018104

UniProtKB/Swiss-Prot: FAHD1_HUMAN, Q6P587

Function: May have hydrolase activity

Enzyme Number (IUBMB): EC 3.-.-.-

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	15231747
GO:0016787	hydrolase 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 Interacting protein for FAHD1 (Q6P587¹) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
EXOSC4 Q9NPD3¹ EBI-597013, EBI-371823
About this table
1 Gene Ontology (GO) biological process term (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
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(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 FAHD1

(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 (FAHD1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001018104

Sigma-Aldrich siRNA for FAHD1

Sigma-Aldrich shRNA for FAHD1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001018104 NM_001142398 NM_031208

REFSEQ mRNAs for FAHD1 gene (3 alternative transcripts):

NM_001018104.2 NM_001142398.1 NM_031208.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001018104 NM_001142398 NM_031208

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001018104
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001018104
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001018104

Additional cDNA sequence:

AF293367.1 AK094199.1 AL136720.1 BC020615.1 BC063017.1 CR533499.1 CR600899.1 CR614808.1

8 DOTS entries:

DT.213917 DT.100791379 DT.40267786 DT.95139614 DT.100830915 DT.86839413 DT.100783832 DT.100783833

24/180 AceView cDNA sequences (see all 180 ):

BU074425 BM553159 BU192949 AW161216 CF541351 BP375902 BM915876 BI833451

BI467211 AI866956 CB177251 BE797513 CB068355 BE407268 AV708486 BG774106

AA427611 AK094199 AA450373 CF264736 CR600899 BM781939 AW162570 BM464264

highest scoring ESTs for FAHD1:

AA428187 AV704376 BQ881828 BX112903 AA053174 AA779040 BM452157 BM559018 BQ341014 BU963528

Unigene Cluster for FAHD1:

Fumarylacetoacetate hydrolase domain containing 1

Hs.513265 [show with all ESTs]

Unigene Representative Sequence: NM_001018104

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000326061 ENST00000382668 ENST00000382666

(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

FAHD1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FAHD1

¹ / ² / ³

6 probe-sets matching FAHD1 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
91547_at²^{, 3}	U95-E	1	1.00	1.00	0.96	0.93	AI341467	0.40	0.67	0.55	1
50252_at²^{, 3}	U95-B	1	1.00	1.00	0.96	1.07	AA149410	0.60	0.75	0.68	1
227960_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW070436	0.40	0.67	0.55	1
226767_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI341467	0.40	0.67	0.55	1
227960_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
226767_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FAHD1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: ATTTTTTCCA

SOURCE GeneReport for Unigene cluster: Hs.513265

(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 FAHD1 gene from 5/16 species (see all 16 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FAHD1¹	--	fumarylacetoacetate hydrolase domain containing 1	89.35(n) 90.41(a)	490068 XM_547188.2 XP_547188.1
chimpanzee (Pan troglodytes)	FAHD1¹	--	fumarylacetoacetate hydrolase domain containing 1	99.26(n) 99.11(a)	741017 XM_001145622.1 XP_001145622.1
cow (Bos taurus)	FAHD1¹	--	fumarylacetoacetate hydrolase domain containing 1	90.05(n) 93.21(a)	509273 NM_001075400.1 NP_001068868.1
rat (Rattus norvegicus)	Fahd1¹	--	fumarylacetoacetate hydrolase domain containing 1	84.46(n) 88.24(a)	302980 NM_001024991.1 NP_001020162.1
mouse (Mus musculus)	Fahd1^{1, 5}	17⁵	fumarylacetoacetate hydrolase domain containing 1^{1, 5}	83.86(n)¹ 87.78(a)¹	68636¹ NM_023480.2¹ NP_075969.1¹ AB041600⁵ AI326146⁵ (see all 13)

About this table Species with no ortholog for FAHD1

ENSEMBL Gene Tree for FAHD1

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

Paralogs for FAHD1 gene

FAHD2B² FAHD2A²

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

10/62 NCBI SNPs in FAHD1 are shown (see all 62 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 88)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs238677^1,2	A,C,F	1823280(-)	`TGAGCA/GTGCCT`	1	--	int¹		1		MN	184
--	rs11648848^1,2	C	1820214(+)	`ACCATC/GTTTTT`	1	--	int¹ trp³		0	--	--	--	--
--	rs238681^1,2	C	1820156(-)	`TGGGCA/GCGGTG`	1	--	int¹		0	--	--	--	--
--	rs10468426^1,2	A	1822615(+)	`AGATCA/CCTGTC`	1	--	int¹		0	--	--	--	--
--	rs11648810^1,2	C	1820150(+)	`atgagC/Gcaccg`	1	--	int¹		0	--	--	--	--
--	rs7185299^1,2	A	1819424(+)	`ggctgC/Tgaagg`	1	--	int¹		0	--	--	--	--
--	rs11644998^1,2	A	1819877(+)	`tttttC/Tttttt`	1	--	int¹ trp³		0	--	--	--	--
--	rs11644748^1,2	A	1819961(+)	`cccagA/Gttcaa`	1	--	int¹		0	--	--	--	--
--	rs11647837^1,2	A	1822311(+)	`gggacA/Tacagg`	1	--	int¹		0	--	--	--	--
	rs11641144^1,2	H	1822158(+)	`AGGCTG/AGGCAT`	1	--	int¹		4		EU EA WA	404

About this table

HapMap Linkage Disequilibrium images for FAHD1 (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

(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

10/12 PubMed articles for FAHD1 gene (see all 12 ):

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. (PubMed id 15551868)^{3, 4} Manjasetty B.A.... Heinemann U. (2004)
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)^{3, 4} Daniels R.J....Higgs D.R. (2001)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{3, 4} Wiemann S.... Poustka A. (2001)
The LIFEdb database in 2006. (PubMed id 16381901)³ Mehrle A....Wiemann S. (2006)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)⁴ Martin J.... Pennacchio L.A. (2004)
A protein interaction framework for human mRNA degradation. (PubMed id 15231747)³ Lehner B. and Sanderson C.M. (2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)³ Wiemann S....Poustka A. (2004)
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)
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Entrez Gene: 81889	HGNC: 14169	AceView: FAHD1	Ensembl:ENSG00000180185	euGenes: HUgn81889
ECgene: FAHD1	H-InvDB: FAHD1

(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 FAHD1
(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)
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Products for FAHD1:

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 FAHD1-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 FAHD1		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for FAHD1		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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FAHD1 Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for FAHD1

Summaries
for FAHD1

Genomic Location
for FAHD1

Proteins
for FAHD1

Protein Domains/
Families
for FAHD1

Gene Function
for FAHD1

Pathways & Interactions
for FAHD1

Drugs & Compounds
for FAHD1

Transcripts
for FAHD1

Expression
for FAHD1

Orthologs
for FAHD1

Paralogs
for FAHD1

SNPs/Variants
for FAHD1

Disorders & Mutations
for FAHD1

Medical News
for FAHD1

Publications
for FAHD1

Search for FAHD1

Genome Databases showing FAHD1

Other Databases showing FAHD1

Specialized Databases showing FAHD1

Licensable Technologies
for FAHD1

Services
for FAHD1

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

FAHD1 Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor FAHD1

Summariesfor FAHD1

Genomic Locationfor FAHD1

Proteinsfor FAHD1

Protein Domains/Familiesfor FAHD1

Gene Functionfor FAHD1

Pathways & Interactionsfor FAHD1

Drugs & Compoundsfor FAHD1

Transcriptsfor FAHD1

Expression for FAHD1

Orthologsfor FAHD1

Paralogsfor FAHD1

SNPs/Variantsfor FAHD1

Disorders & Mutationsfor FAHD1

Medical Newsfor FAHD1

Publicationsfor FAHD1

Search for FAHD1

Genome Databases showing FAHD1

Other Databases showing FAHD1

Specialized Databases showing FAHD1

Licensable Technologiesfor FAHD1

Servicesfor FAHD1

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 FAHD1

Summaries
for FAHD1

Genomic Location
for FAHD1

Proteins
for FAHD1

Protein Domains/
Families
for FAHD1

Gene Function
for FAHD1

Pathways & Interactions
for FAHD1

Drugs & Compounds
for FAHD1

Transcripts
for FAHD1

Expression
for FAHD1

Orthologs
for FAHD1

Paralogs
for FAHD1

SNPs/Variants
for FAHD1

Disorders & Mutations
for FAHD1

Medical News
for FAHD1

Publications
for FAHD1

Licensable Technologies
for FAHD1

Services
for FAHD1