RBCC Red Blood Cell Collection

TM237_HUMAN

Source: PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: TMEM237 , ALS2CR4
Protein names and data: TM237_HUMAN , Transmembrane protein 237 , Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein Lenght: 408 a.a.
Mass: 45526 Da
fasta formatted sequence
Function: Component of the transition zone in primary cilia. Required for ciliogenesis.
Disease: ( OMIM: 614423 614424 ) Joubert syndrome 14 (JBTS14) [MIM:614424]: An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.

Genetic variants

155 - 155 D -> A (found at heterozygosity in a patient with Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in MKKS; hypomorphic variant). VAR_067019

Database cross-references

UniProt: Q96Q45
Ensembl: ENST00000409444
Ensembl: ENST00000409883
MIM: 614423
MIM: 614424
neXtProt: NX_Q96Q45
Antibodypedia: Q96Q45 (may not find the protein thus also not any antibody)
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