CDIN1 gene

CDAN1 interacting nuclease 1

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

From NCBI Gene:

This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

From UniProt:

Plays a role in erythroid cell differentiation.

From NCBI Gene:

  • Congenital dyserythropoietic anemia type type 1B

From UniProt:

Anemia, congenital dyserythropoietic, 1B (CDAN1B): An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. [MIM:615631]

Cytogenetic Location: 15q14, which is the long (q) arm of chromosome 15 at position 14

Molecular Location: base pairs 36,579,611 to 36,810,248 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q14, which is the long (q) arm of chromosome 15 at position 14
  • C15orf41
  • HH114