Gene: OFD1

Alternate names for this Gene: 71-7A|CXorf5|JBTS10|RP23|SGBS2

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: OFD1 centriole and centriolar satellite protein

Type of Gene: protein-coding

Gene: TRAPPC2

Alternate names for this Gene: MIP2A|SEDL|SEDT|TRAPPC2P1|TRS20|ZNF547L|hYP38334

Gene Summary: The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: trafficking protein particle complex 2

Type of Gene: protein-coding