Gene: RSPH4A
Alternate names for this Gene: CILD11|RSHL3|RSPH6B|dJ412I7.1
Gene Summary: This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 6
Location in Chromosome : 6q22.1
Description of this Gene: radial spoke head component 4A
Type of Gene: protein-coding
rs767490154 in
RSPH4A gene and
CILIARY DYSKINESIA, PRIMARY, 11
PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
PMID 23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
rs797045147 in
RSPH4A gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 24824133 2015 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
PMID 23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
rs118204043 in
RSPH4A gene and
Ciliary Motility Disorders
PMID 22448264 2012 Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
PMID 25789548 2015 Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
PMID 23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.