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Browse our OFD1 Proteins (OFD1)

Full name:
Oral-Facial-Digital Syndrome 1 Proteins (OFD1)
On are 3 Oral-Facial-Digital Syndrome 1 (OFD1) Proteins from 2 different suppliers available. Additionally we are shipping OFD1 Antibodies (12) and many more products for this protein. A total of 16 OFD1 products are currently listed.
71-7A, CXorf5, JBTS10, RGD1562231, RP23, SGBS2
list all proteins Gene Name GeneID UniProt
OFD1 8481 O75665
Rat OFD1 OFD1 302661  

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OFD1 Proteins (OFD1) by Origin

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

  1. polycystins are necessary for assembly of a novel flotillin (show FLOT2 Proteins)-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations.

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

  3. loss of BBS1 (show BBS1 Proteins), BBS4 (show BBS4 Proteins), or OFD1 led to decreased NF-kappaB (show NFKB1 Proteins) activity and concomitant IkappaBbeta (show NFKBIB Proteins) accumulation and that these defects were ameliorated with SFN (show SFN Proteins) treatment.

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

  5. 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.

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

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

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

  9. 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.

  10. Ofd1 acts at the distal centriole to build distal appendages, recruit Ift88 (show IFT88 Proteins), and stabilize centriolar microtubules at a defined length.

OFD1 Protein Profile

Protein 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)
  • oral-facial-digital syndrome 1 (ofd1)
  • oral-facial-digital syndrome 1 (Ofd1)
  • 71-7A protein
  • CXorf5 protein
  • JBTS10 protein
  • RGD1562231 protein
  • RP23 protein
  • SGBS2 protein

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

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