KBTBD13 (15q22.31) , NEM6, nemaliinimyopatia 6, HCG1645727

 https://www.ncbi.nlm.nih.gov/gene/390594

Also known as

NEM6; HCG1645727

Summary

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

Preferred Names

kelch repeat and BTB domain-containing protein 13

Names

kelch repeat and BTB (POZ) domain containing 13

nemaline myopathy type 6

1. NM_001101362.2 → NP_001094832.1  kelch repeat and BTB domain-containing protein 13
   

   ORIGIN      
           1 margpqtlvq vwvggqlfqa drallvehcg ffrglfrsgm retraaevrl gvlsaggfra
          61 tlqvlrgdrp alaaedellq avecaaflqa palarflehn ltsdncallc daaaafglrd
         121 vfhsaalfic dgerelaael alpearayva alrpssyaav sthtpapgfl edasrtlcyl
         181 deeedawrtl aalpleastl lagvatlgnk lyivggvrga skevvelgfc ydpdggtwhe
         241 fpsphqpryd talagfdgrl yaiggefqrt pissverydp aagcwsfvad lpqpaagvpc
         301 aqacgrlfvc lwrpadttav veyavrtdaw lpvaelrrpq syghcmvahr dslyvvrngp
         361 sddflhcaid clnlatgqwt alpgqfvnsk galftavvrg dtvytvnrmf tllyaieggt
         421 wrllrekagf prpgslqtfl lrlppgapgp vtsttael
   //

   See identical proteins and their annotated locations for NP_001094832.1
   
   Status: REVIEWED

   Source sequence(s)

   AC013553, DB331058

   Consensus CDS

   CCDS45281.1

   UniProtKB/Swiss-Prot

   C9JR72

   Related

   ENSP00000388723.2, ENST00000432196.4

   Conserved Domains (4) summary

   smart00225
   Location:13 → 101

   BTB; Broad-Complex, Tramtrack and Bric a brac

   sd00038
   Location:202 → 244

   Kelch; KELCH repeat [structural motif]

   pfam01344
   Location:247 → 292

   Kelch_1; Kelch motif

   cl02518
   Location:7 → 101

   BTB; BTB/POZ domain

Brain. 2003 Jul;126(Pt 7):1545-51. Epub 2003 Jun 4.

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Gommans IM¹, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H.

Author information

1

Neuromuscular Centre, Nijmegen Institute of Neurology, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. b.vanengelen@neuro.umcn.nl

Erratum in

• Brain. 2003 Sep;126(Pt 9):2115. Abstract

Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin (ACTA1), nebulin (NEB), beta-tropomysin (TPM2) and troponin T (TNNT1). In addition, mutations in the ryanodine receptor gene (RYR1) have been associated with core-rod myopathy. Here we report linkage in two unrelated families, with a variant of nemaline myopathy, with associated core-like lesions. The clinical phenotype consists of muscle weakness in addition to a peculiar kind of muscle slowness. A genome-wide scan revealed a locus for nemaline myopathy with core-like lesions on chromosome 15q21-q23 for both families. Combining the two families gave a two-point LOD score of 10.65 for D15S993. The alpha-tropomyosin-1 gene (TPM1) located within this region is the strongest candidate gene. However, no mutations were found in the protein-coding region of TPM1, although small deletions or mutations in an intron cannot be excluded. The critical region contains few other candidate genes coding for muscle proteins and several genes of unknown function, and has not yet been sequenced completely. The novel phenotype of nemaline myopathy in the two presented families corresponds to an also novel, as yet uncharacterized, genotype.