Transmembrane Protein 231 Protéines (TMEM231)

TMEM231 encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane.

afficher tous les protéines Gène GeneID UniProt
Humain TMEM231 TMEM231 79583 Q9H6L2
Souris TMEM231 TMEM231 234740 Q3U284
Rat TMEM231 TMEM231 361410 Q5FVM1
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Souris rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Connectez-vous pour afficher 50 to 55 Days
$4,649.05
Détails
Cellules d'insectes Humain rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Connectez-vous pour afficher 50 to 55 Days
$6,616.87
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HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher Disponible
$814.00
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Plus protéines pour Transmembrane Protein 231 (TMEM231) partenaires d'interaction

Human Transmembrane Protein 231 (TMEM231) interaction partners

  1. Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome.

  2. Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS (Montrer MKS1 Protéines).

  3. TMEM231 represents a novel MKS (Montrer MKS1 Protéines) locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies.

  4. mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone.

Profil protéine TMEM231

Profil protéine

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene.

Gene names and symbols associated with TMEM231

  • transmembrane protein 231 (tmem231)
  • transmembrane protein 231 (TMEM231)
  • transmembrane protein 231 (Tmem231)
  • 4932417I16Rik Protéine
  • ALYE870 Protéine
  • Gm178 Protéine
  • JBTS20 Protéine
  • PRO1886 Protéine
  • RGD1306153 Protéine
  • zgc:64166 Protéine

Protein level used designations for TMEM231

chst5 , transmembrane protein 231 , UPF0513 membrane protein

GENE ID SPECIES
393358 Danio rerio
479647 Canis lupus familiaris
100145127 Xenopus (Silurana) tropicalis
100172341 Pongo abelii
79583 Homo sapiens
511832 Bos taurus
234740 Mus musculus
361410 Rattus norvegicus
425108 Gallus gallus
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