Gene Symbol | B9D1 |
Entrez Gene ID | 27077 |
Full Name | B9 domain containing 1 |
Synonyms | B9,EPPB9,JBTS27,MKS9,MKSR1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Meckel syndrome 9, 614209 (3); Joubert syndrome 27, 617120 (3) |