Product Information
22851-1-PBS targets OFD1 in IHC, IF/ICC, Indirect ELISA applications and shows reactivity with human samples.
| Tested Reactivity | human |
| Host / Isotype | Rabbit / IgG |
| Class | Polyclonal |
| Type | Antibody |
| Immunogen |
CatNo: Ag18898 Product name: Recombinant human OFD1 protein Source: e coli.-derived, PGEX-4T Tag: GST Domain: 1-305 aa of BC096344 Sequence: MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQ Predict reactive species |
| Full Name | oral-facial-digital syndrome 1 |
| Calculated Molecular Weight | 1012 aa, 117 kDa |
| Observed Molecular Weight | 110-120 kDa |
| GenBank Accession Number | BC096344 |
| Gene Symbol | OFD1 |
| Gene ID (NCBI) | 8481 |
| RRID | AB_2879177 |
| Conjugate | Unconjugated |
| Form | Liquid |
| Purification Method | Antigen affinity purification |
| UNIPROT ID | O75665 |
| Storage Buffer | PBS only, pH 7.3. |
| Storage Conditions | Store at -80°C. |
Background Information
OFD1, also named CXorf5 and 71-7A, belongs to the OFD1 family. It has been implicated in several developmental syndromes, including a male-lethal X-linked dominant condition, Oral-Facial-Digital type 1 (OFD1) syndrome, X-linked recessiveSimpson-Golabi-Behmel syndrome type 2 (SGBS2), and Joubert syndrome and related disorders (JSRDs). It is a component of the centrioles controlling mother and daughter centrioles' length. It recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. OFD1 plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. This antibody recognizes all the isoforms of OFD1. The 43 kDa is isoform 2. The ~80 kDa band is unknown.
