Gene: KIAA0586

Alternate names for this Gene: JBTS23|SRTD14|Talpid3

Gene Summary: This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.1

Description of this Gene: KIAA0586

Type of Gene: protein-coding

Gene: TIMM9

Alternate names for this Gene: TIM9|TIM9A

Gene Summary: TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004].

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.1

Description of this Gene: translocase of inner mitochondrial membrane 9

Type of Gene: protein-coding

rs555421894 in KIAA0586;TIMM9 gene and JOUBERT SYNDROME 23 PMID 26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

rs555421894 in KIAA0586;TIMM9 gene and SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY PMID 26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.