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OFD1 Gene

protein-coding GIFtS: 59

GC0XP013662

oral-facial-digital syndrome 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CXorf5)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
71-7A ^¹, ²
CXorf5 ^², ³, ⁵
MGC117039 ^²
MGC117040 ^²
OTTHUMP00000022940 ^²
SGBS2 ^², ⁵

Descriptions
Protein 71-7A ^³
oral-facial-digital syndrome 1 ^²

External Ids
HGNC: 2567¹
Entrez Gene: 8481²
UniProtKB: O75665³
Ensembl: ENSG00000046651⁷

Search outside databases for aliases for OFD1 gene

Previous GC identifers: GC0XP012991 GC0XP012572 GC0XP013114 GC0XP013512

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for OFD1:

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model

has been used to study the effect of mutations in this gene. The mouse gene is also located on the

X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in

this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel

syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome

5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts

have been described for this gene but the biological validity of these transcripts has not been

determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665

Function: Unknown. May be involved in differentiation of metanephric precursor cells

Gene Wiki entry for OFD1

(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 OFD1 gene

Entrez Gene cytogenetic band: Xp22 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22

OFD1 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 X GeneLoc Exon Structure

GeneLoc location for GC0XP013662: (about GC identifiers)

Start:	13,662,785 bp from pter
End:	13,697,393 bp from pter
Size:	34,609 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011757.15

(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: OFD1_HUMAN, O75665 (See protein sequence)

Recommended Name: Oral-facial-digital syndrome 1 protein

Size: 1012 amino acids; 116671 Da

Subcellular location: Cytoplasm. Centrosome

Secondary accessions: O75666 Q4VAK4

Alternative splicing: 3 isoforms: O75665-1 O75665-2 O75665-3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_003602.1

ENSEMBL proteins:

ENSP00000369923 ENSP00000369941 ENSP00000381432 ENSP00000344314

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 (OFD1)

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005737	cytoplasm	IEA	--
GO:0005813	centrosome	IEA	--

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Antibodies for OFD1:

	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 OFD1

Assays for OFD1:

	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)
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Graphical View of Domain Structure for InterPro Entry O75665

ProtoNet protein and cluster: O75665

1 Blocks protein family: IPB006594 Lissencephaly type-1-like homology motif

UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665

Similarity: Contains 1 LisH domain

(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 (OFD1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003611

Applied Biosystems Silencer® siRNAs for OFD1

Sigma-Aldrich siRNA for OFD1

Sigma-Aldrich shRNA for OFD1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for OFD1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_003611
Myc/DDK tagged cDNA clone in CMV expression vector: NM_003611
untagged cDNA clone in CMV expression vector: NM_003611

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_003611

UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665

Function: Unknown. May be involved in differentiation of metanephric precursor cells

11 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ofd1):

	craniofacial	digestive/alimentary	embryogenesis	growth/size
lethality-prenatal/perinatal	limbs/digits/tail	nervous system	renal/urinary system	respiratory system
skeleton

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

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.)
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5/77 Interacting proteins for OFD1 (O75665² ENSP00000344314³) via UniProtKB, MINT, and/or STRING (see all 77 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GPRASP1	Q5JY77²	MINT-63221
KIAA1128	Q9H7U1²	MINT-63222
KIAA1377	Q9P2H0²	MINT-63223
LUC7L2	Q9Y383²	MINT-63224
PAFAH1B1	ENSP00000006951³	STRING (score=.984)

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--
GO:0035083	cilium axoneme assembly	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 OFD1

(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 (OFD1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003611

Sigma-Aldrich siRNA for OFD1

Sigma-Aldrich shRNA for OFD1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_003611

REFSEQ mRNAs for OFD1 gene:

NM_003611.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_003611

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003611
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_003611
                                 untagged cDNA clone in CMV expression vector: NM_003611

Additional cDNA sequence:

AK225847.1 AK289677.1 AK290354.1 AK297104.1 AK311067.1 BC012324.1 BC030787.1 BC042830.1

BC052809.1 BC062432.1 BC092448.1 BC096344.3 BC096345.1 Y15164.1

22 DOTS entries:

DT.100794905 DT.455647 DT.101959262 DT.95281783 DT.121307239 DT.40257751 DT.92020973 DT.100794904

DT.101976838 DT.102831798 DT.97824032 DT.92433664 DT.92433677 DT.99937425 DT.99939489 DT.120836434

DT.86849468 DT.100794906 DT.75132428 DT.92433666 DT.95074813 DT.92433675

24/181 AceView cDNA sequences (see all 181 ):

AW089662 AW292752 AA504821 T16276 CA842137 Z41831 BX642816 BQ018682

BM984240 AW118344 BU738646 BM756408 AA399610 BU676315 CB162920 AA994778

BX491503 AA514458 CA841843 BG622551 BM717178 AI561264 AA173950 BX104531

highest scoring ESTs for OFD1:

AA173950 AA399610 AA504821 AA514458 AA778870 AA780326 AA824530 AA994778 AI049632 AI245948

Unigene Cluster for OFD1:

Oral-facial-digital syndrome 1

Hs.6483 [show with all ESTs]

Unigene Representative Sequence: NM_003611

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for OFD1 (see all 10 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16a	·	16b	^	17a	·	17b	^	18	^
SP1:									-				-		-										-																								-
SP2:									-				-		-										-												-												-
SP3:									-				-		-										-										-		-												-
SP4:									-				-		-
SP5:											-		-		-

ExUns:	19	^	20	^	21	^	22	^	23	^	24a	·	24b	^	25	^	26a	·	26b	^	27
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for OFD1

4 Ensembl transcripts including schematic representations:

ENST00000380550 ENST00000380567 ENST00000398395 ENST00000340096

(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 )
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OFD1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for OFD1

¹ / ² / ³

4 probe-sets matching OFD1 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
35764_at²^{, 3}	U95-A	2	1.00	0.94	0.81	1.11	Y15164	0.80	0.80	0.80	1
69348_g_at²^{, 3}	U95-E	5	1.00	0.51	0.90	0.89	AI654951	0.60	1.00	0.82	1
203569_s_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_003611	0.40	0.67	0.55	1
203569_s_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks OFD1 for binary patterns associated with the probe-sets selected above

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Data from

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

CGAP SAGE TAG: TTTGCTGCCC

SOURCE GeneReport for Unigene cluster: Hs.6483
Expression variation in blood from EXPOLDB for OFD1
UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665
Tissue specificity: Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric
mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in
metanephros, brain, tongue, and limb

(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 OFD1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	OFD1¹	--	oral-facial-digital syndrome 1	82.12(n) 75(a)	480841 XM_537958.2 XP_537958.2
chimpanzee (Pan troglodytes)	OFD1¹	--	oral-facial-digital syndrome 1	94.92(n) 91.14(a)	461914 XM_517799.2 XP_517799.1
cow (Bos taurus)	OFD1¹	--	oral-facial-digital syndrome 1	78.12(n) 71.93(a)	526925 XM_605308.3 XP_605308.2
rat (Rattus norvegicus)	Ofd1¹	--	oral-facial-digital syndrome 1 gene homolog (human)	78.81(n) 70.96(a)	302661 XM_217615.4 XP_217615.4
mouse (Mus musculus)	Ofd1^{1, 5}	X (72.00 cM)⁵	oral-facial-digital syndrome 1 gene homolog (human)^{1, 5}	78.08(n)¹ 68.17(a)¹	237222¹ NM_177429.2¹ NP_803178.1¹ AA240611⁵ AA474164⁵ (see all 16)

About this table Species with no ortholog for OFD1

ENSEMBL Gene Tree for OFD1

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

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

10/86 NCBI SNPs in OFD1 are shown (see all 86 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 42)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs12841518^1,2	H	13664715(+)	`AAAGAA/TAAGGT`	1	E/D	mis¹ trp³		4		EU EA WA	404
--	rs4830892^1,2	A	13697860(+)	`GAAGCA/CGAGAC`	1	--	ng3¹		0	--	--	--	--
	rs5979959^1,2	F,H	13679373(+)	`GAGGAG/AACCTA`	1	E/E	syn¹ ese³		4		EU EA WA	412
--	rs11095624^1,2	H	13674903(+)	`TTCCAG/AAATGA`	1	Q/Q	syn¹ ese³		4		EU EA WA	418
	rs2887688^1,2	A,C,F,H,O	13666308(+)	`CTTAAC/TGGTTT`	1	--	int¹		8		EU EA WA NA	632
	rs2283707^1,2	A,C,F,H,O	13693855(+)	`TATGGA/GCCTTG`	1	--	int¹		16		EA NA EU WA	1050
	rs6527959^1,2	A,C,F,H	13689045(+)	`AACTAG/ATAGAG`	1	--	int¹		8		EU EA WA	732
	rs3815049^1,2	A,C,F,H	13681497(+)	`GGGGGA/GAAATA`	1	--	int¹ trp³		4		EU EA WA	416
	rs2238910^1,2	C,F,H,O	13676084(+)	`TCCCCC/GTAGTG`	1	--	int¹		11		EU EA WA NA	736
	rs2285637^1,2	A,C,F,H	13686961(+)	`AACTTC/TCTTGG`	1	--	int¹		4		EU EA WA	416

About this table

HapMap Linkage Disequilibrium images for OFD1 (up to first 250kb)

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

OMIM: 300170 disorders: 311200 300209

UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665

Defects in OFD1 are a cause of oral-facial-digital syndrome type I (OFD I) [MIM:311200].

OFD I is a X-linked dominant condition with lethality in males. The syndrome is characterized by

clefts of the jaw and tongue in the area of the lateral incisors and canines. Other features are

malformations of the face and skull, malformation of the hands (specifically syndactyly,

clinodactyly, brachydactyly and occasionally postaxial polydactyly) and mental retardation. ODF I

also causes polycystic kidney disease

Defects in OFD1 are associated with Simpson-Golabi-Behmel syndrome type 2 (SGBS2)

[MIM:300209]. This syndrome consists of a novel X-linked recessive mental retardation (XLMR)

syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a mutation in the OFD1

gene. Mutations of OFD1 have been associated with OFD I [MIM:311200] that is characterized by

X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier SGBS2 females

are clinically inconspicuous, and the affected males suffered from severe mental retardation,

recurrent respiratory tract infections and macrocephaly. All but one of the affected males died

from respiratory problems in infancy; and impaired ciliary motility is confirmed in the index

patient by high-speed video microscopy examination of nasal epithelium

2 Novoseek disease relationships for OFD1 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
oral-facial-digital syndrome, type i	98.96	1	11179005 (1)
developmental disabilities	61.76	2	10395802 (1), 16311594 (1)

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1 PharmGKB disease relationship for OFD1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

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GeneTests: OFD1

Oral-Facial-Digital Syndrome Type I

Human Gene Mutation Database: OFD1

(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)
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10/32 PubMed articles for OFD1 gene (see all 32 ):

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. (PubMed id 9722947)^{1, 2, 3, 4} de Conciliis L.... Banfi S. (1998)
Identification of the gene for oral-facial-digital type I syndrome. (PubMed id 11179005)^{1, 3, 4} Ferrante M.I.... Franco B. (2001)
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. (PubMed id 11950863)^{1, 3, 4} Rakkolainen A.... Jaervelae I. (2002)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. (PubMed id 16783569)^{1, 3, 4} Budny B.... Ropers H.-H. (2006)
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)
Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)^{3, 4} Andersen J.S....Mann M. (2003)
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. (PubMed id 12595504)^{3, 4} Romio L.... Feather S.A. (2003)
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. (PubMed id 9215688)^{2, 3} Feather S.A....Winter R.M. (1997)
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. (PubMed id 19023858)^{1, 3} Thauvin-Robinet C....Faivre L. (2009)
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. (PubMed id 17761535)^{1, 3} Giorgio G....Franco B. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 8481	HGNC: 2567	AceView: OFD1	Ensembl:ENSG00000046651	euGenes: HUgn8481
ECgene: OFD1	H-InvDB: OFD1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=OFD1

Licensable Technologies for OFD1
(Available from WIS Yeda, Salk, Tufts)

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(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 OFD1:

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 OFD1-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 OFD1		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for OFD1		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

	Recombinant Proteins (OFD1)
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Search Novus for antibodies for OFD1

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OFD1 Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for OFD1

Summaries
for OFD1

Genomic Location
for OFD1

Proteins
for OFD1

Protein Domains/
Families
for OFD1

Gene Function
for OFD1

Pathways & Interactions
for OFD1

Drugs & Compounds
for OFD1

Transcripts
for OFD1

Expression
for OFD1

Orthologs
for OFD1

Paralogs
for OFD1

SNPs/Variants
for OFD1

Disorders & Mutations
for OFD1

Medical News
for OFD1

Publications
for OFD1

Search for OFD1

Genome Databases showing OFD1

Other Databases showing OFD1

Specialized Databases showing OFD1

Licensable Technologies
for OFD1

Services
for OFD1

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

OFD1 Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor OFD1

Summariesfor OFD1

Genomic Locationfor OFD1

Proteinsfor OFD1

Protein Domains/Familiesfor OFD1

Gene Functionfor OFD1

Pathways & Interactionsfor OFD1

Drugs & Compoundsfor OFD1

Transcriptsfor OFD1

Expression for OFD1

Orthologsfor OFD1

Paralogsfor OFD1

SNPs/Variantsfor OFD1

Disorders & Mutationsfor OFD1

Medical Newsfor OFD1

Publicationsfor OFD1

Search for OFD1

Genome Databases showing OFD1

Other Databases showing OFD1

Specialized Databases showing OFD1

Licensable Technologiesfor OFD1

Servicesfor OFD1

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 OFD1

Summaries
for OFD1

Genomic Location
for OFD1

Proteins
for OFD1

Protein Domains/
Families
for OFD1

Gene Function
for OFD1

Pathways & Interactions
for OFD1

Drugs & Compounds
for OFD1

Transcripts
for OFD1

Expression
for OFD1

Orthologs
for OFD1

Paralogs
for OFD1

SNPs/Variants
for OFD1

Disorders & Mutations
for OFD1

Medical News
for OFD1

Publications
for OFD1

Licensable Technologies
for OFD1

Services
for OFD1