RSPRY1 gene

ring finger and SPRY domain containing 1

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

From NCBI Gene:

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

From NCBI Gene:

  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type

From UniProt:

Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA): An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. [MIM:616723]

Cytogenetic Location: 16q13, which is the long (q) arm of chromosome 16 at position 13

Molecular Location: base pairs 57,186,284 to 57,240,475 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q13, which is the long (q) arm of chromosome 16 at position 13
  • SEMDFA