CCDC174 gene

coiled-coil domain containing 174

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

From NCBI Gene:

The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]

From UniProt:

Probably involved in neuronal development.

From NCBI Gene:

  • Hypotonia, infantile, with psychomotor retardation

From UniProt:

Hypotonia, infantile, with psychomotor retardation (IHPMR): An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. [MIM:616816]

Cytogenetic Location: 3p25.1, which is the short (p) arm of chromosome 3 at position 25.1

Molecular Location: base pairs 14,651,683 to 14,673,186 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.1, which is the short (p) arm of chromosome 3 at position 25.1
  • C3orf19
  • HSPC212
  • IHPM
  • IHPMR