MIPOL1 gene

mirror-image polydactyly 1

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

From NCBI Gene:

This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]

From UniProt:

A chromosomal aberration involving MIPOL1 is found in a patient with mirror-image polydactyly of hands and feet without other anomalies (MIP). Translocation t(2;14)(p23.3;q13). MIP is a very rare congenital anomaly characterized by mirror-image duplication of digits. MIP is occasionally associated with dimelia of the ulna and fibula, tibial and/or fibular hypoplasia, nasal abnormality and other malformations. Most MIP cases are sporadic, but very rare parent-child transmissions observed in familial cases suggest an autosomal mode of inheritance.

Cytogenetic Location: 14q13.3-q21.1, which is the long (q) arm of chromosome 14 between positions 13.3 and 21.1

Molecular Location: base pairs 37,197,888 to 37,579,207 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q13.3-q21.1, which is the long (q) arm of chromosome 14 between positions 13.3 and 21.1
  • CCDC193