HYLS1 gene

HYLS1, centriolar and ciliogenesis associated

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

From NCBI Gene:

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

From NCBI Gene:

  • Hydrolethalus syndrome 1

From UniProt:

Hydrolethalus syndrome 1 (HLS1): A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. [MIM:236680]

Cytogenetic Location: 11q24.2, which is the long (q) arm of chromosome 11 at position 24.2

Molecular Location: base pairs 125,883,614 to 125,900,646 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q24.2, which is the long (q) arm of chromosome 11 at position 24.2