RNF113A gene

ring finger protein 113A

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

From NCBI Gene:

This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

From NCBI Gene:

  • Trichothiodystrophy 5, nonphotosensitive

From UniProt:

Trichothiodystrophy 5, non-photosensitive (TTD5): A X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. [MIM:300953]

Cytogenetic Location: Xq24, which is the long (q) arm of the X chromosome at position 24

Molecular Location: base pairs 119,870,532 to 119,871,828 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq24, which is the long (q) arm of the X chromosome at position 24
  • Cwc24
  • RNF113
  • TTD5
  • ZNF183