C15orf41 gene

chromosome 15 open reading frame 41

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 NCBI Gene:

  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib

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 36,579,603 to 36,810,260 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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