CRIPT gene

CXXC repeat containing interactor of PDZ3 domain

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

From NCBI Gene:

This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

From UniProt:

Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.

From NCBI Gene:

  • Short stature with microcephaly and distinctive facies

From UniProt:

Short stature with microcephaly and distinctive facies (SSMF): A disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge. [MIM:615789]

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21

Molecular Location: base pairs 46,617,172 to 46,630,176 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21
  • HSPC139
  • SSMDF