C5orf42 gene

chromosome 5 open reading frame 42

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

From NCBI Gene:

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

From NCBI Gene:

  • Orofaciodigital syndrome 6
  • Familial aplasia of the vermis
  • Joubert syndrome 17

From UniProt:

Orofaciodigital syndrome 6 (OFD6): A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. [MIM:277170]

Joubert syndrome 17 (JBTS17): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. [MIM:614615]

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2

Molecular Location: base pairs 37,063,928 to 37,249,428 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2
  • Hug
  • JBTS17
  • OFD6