NP_001188295.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
dynein light chain 1, axonemal isoform 2
NCBI Official Synonym Full Names
dynein, axonemal, light chain 1
NCBI Protein Information
dynein light chain 1, axonemal
UniProt Protein Name
Dynein light chain 1, axonemal
UniProt Synonym Gene Names
UniProt Entry Name
DNAL1_HUMAN
NCBI Summary for DNAL1
This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
UniProt Comments for DNAL1
DNAL1: Defects in DNAL1 are the cause of primary ciliary dyskinesia type 16 (CILD16). A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the dynein light chain LC1-type family. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 14q24.3
Disease: Ciliary Dyskinesia, Primary, 16
Research Articles on DNAL1
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Products associated with anti-DNAL1 antibody
Pathways associated with anti-DNAL1 antibody
Diseases associated with anti-DNAL1 antibody
Organs/Tissues associated with anti-DNAL1 antibody
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