1. Gene
  2. SNTB1 - syntrophin beta 1 Gene

SNTB1 - syntrophin beta 1 Gene

Homo sapiens

Also known as A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43

Gene ID: 6641 | Gene type: protein coding

About SNTB1

Cytogenetic location: 8q24.12 Genomic coordinates (GRCh38): 8:120,535,756-120,812,046 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues and 4 paralogues. Broad expression in thyroid (RPKM 41.8), adrenal (RPKM 32.7) and 22 other tissues.

Summary

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

SNTB1 Products(1)

mRNA Protein Name
NM_021021.4 NP_066301.1 beta-1-syntrophin

SNTB1 Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (115 - 191)

PH

PH: PH domain (325 - 431)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 538 a.a.
Protein Preferred Names Protein Names

beta-1-syntrophin

59 kDa dystrophin-associated protein A1 basic component 1

Related Diseases

Diseases Alias
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Myopathy

Muscular Diseases

Myopathies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SNTB1 VGNC VGNC:59366
Rattus norvegicus SNTB1 RGD RGD:1307728
Canis familiaris SNTB1 VGNC VGNC:46613
Macaca mulatta SNTB1 VGNC VGNC:77680
Mus musculus SNTB1 MGD MGI:101781