Gene: IFT122

Alternate names for this Gene: CED|CED1|FAP80|SPG|WDR10|WDR10p|WDR140

Gene Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3-q22.1

Description of this Gene: intraflagellar transport 122

Type of Gene: protein-coding

Gene: MBD4

Alternate names for this Gene: MED1

Gene Summary: The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3

Description of this Gene: methyl-CpG binding domain 4, DNA glycosylase

Type of Gene: protein-coding