B9D1

B9 domain containing 1

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

From NCBI Gene:

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]

From UniProt:

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Meckel syndrome, type 9

From UniProt:

Meckel syndrome 9 (MKS9): A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. [MIM:614209]

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 19,335,372 to 19,378,193 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2
  • B9
  • EPPB9
  • MKS9
  • MKSR1