| Entrez Gene ID | 10324 |
|---|---|
| Official Gene Symbol | KLHL41 (GeneCards) |
| Full name | kelch like family member 41 |
| Location | 2q31.1 |
| Other ids | Vega : OTTHUMG00000132205 MIM : 607701 HGNC : HGNC:16905 Ensembl : ENSG00000239474 |
| Other names | Krp1, KBTBD10, SARCOSIN |
| Summary | This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29212 | 10324 | KLHL41 | 2 | 170377387 | 170377387 | Autism Spectrum Disorders | PASM |