OFD1 (OFD1) ELISA试剂盒产品概述

Full name:
Oral-Facial-Digital Syndrome 1 ELISA试剂盒 (OFD1)
在www.antibodies-online.cn可供0 Oral-Facial-Digital Syndrome 1 (OFD1) ELISA试剂盒的不同的供货商。 再加上,我们可以发OFD1 抗体 (14)OFD1 蛋白 (3)和数多这个蛋白质的别的产品。 总共18 OFD1产品已列进来了。
别名:
71-7A, CXorf5, JBTS10, RGD1562231, RP23, SGBS2
list all ELISA KIts 基因 基因ID UniProt
 OFD1 OFD1 8481 O75665
大鼠 OFD1 OFD1 302661  

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适于 OFD1 相互作用对的更多 ELISA 试剂盒

Human Oral-Facial-Digital Syndrome 1 (OFD1) interaction partners

  1. The underlying pathogenesis of CHD (显示 CHDH ELISA试剂盒) in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development.

  2. polycystins are necessary for assembly of a novel flotillin (显示 FLOT2 ELISA试剂盒)-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations.

  3. OFD1 regulation and primary cilium formation are defective in autophagy-deficient cells

  4. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB (显示 NFKB1 ELISA试剂盒) activity and concomitant IkappaBbeta (显示 NFKBIB ELISA试剂盒) accumulation and that these defects were ameliorated with SFN (显示 SFN ELISA试剂盒) treatment.

  5. Novel OFD1 mutations have been identified in males with orofaciodigital syndromes and ciliary basal body docking impairment.

  6. Identification of a causative splicing mutation in OFD1, through exome sequencing, in a family with three males having an 'unclassified' X-linked lethal congenital malformation syndrome.

  7. Data indicate that although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patient.

  8. Deep intronic mutation in OFD1 causes a severe form of X-linked retinitis pigmentosa.

  9. Sequence deletion in OFD1 has been identified as the cause of X-linked Joubert syndrome.

  10. A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in proband, her mother, and her sister. All 3 women had similar oral phenotype; new mutation might be involved in development of OFD1 oral manifestations.

OFD1 抗原简介

Antigen Summary

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.

Alternative names and synonyms associated with OFD1

  • oral-facial-digital syndrome 1 (OFD1) Elisa Kit
  • oral-facial-digital syndrome 1 (ofd1) Elisa Kit
  • oral-facial-digital syndrome 1 (Ofd1) Elisa Kit
  • 71-7A Elisa Kit
  • CXorf5 Elisa Kit
  • JBTS10 Elisa Kit
  • RGD1562231 Elisa Kit
  • RP23 Elisa Kit
  • SGBS2 Elisa Kit

Protein level used designations for OFD1

oral-facial-digital syndrome 1 , oral-facial-digital syndrome 1 protein-like , oral-facial-digital syndrome 1 protein , protein 71-7A , retinitis pigmentosa 23 (X-linked recessive) , oral-facial-digital syndrome 1 gene homolog

GENE ID SPECIES
100461471 Pongo abelii
100543134 Meleagris gallopavo
100563722 Anolis carolinensis
100591843 Nomascus leucogenys
8481 Homo sapiens
302661 Rattus norvegicus
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