CCDC28B gene

coiled-coil domain containing 28B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

From UniProt:

Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex.

From NCBI Gene:

  • Bardet-Biedl syndrome

From UniProt:

Bardet-Biedl syndrome (BBS): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. [MIM:209900]

Cytogenetic Location: 1p36.11-p34.2, which is the short (p) arm of chromosome 1 between positions 36.11 and 34.2

Molecular Location: base pairs 32,200,386 to 32,205,390 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.11-p34.2, which is the short (p) arm of chromosome 1 between positions 36.11 and 34.2