LBR_HUMAN
Source:
BSc_CH
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:
LBR
Protein names and data:
LBR_HUMAN
, Lamin-B receptor
, Integral nuclear envelope inner membrane protein; LMN2R
Lenght: 615 a.a.
Mass: 70703 Da
fasta formatted sequence
Function:
Anchors the lamina and the heterochromatin to the inner nuclear membrane.
Disease:
( OMIM:
169400
215140
600024
613471
)
Pelger-Huet anomaly (PHA) [MIM:169400]: An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. Some individuals occasionally have skeletal anomalies, developmental delay, and seizures. Note=The disease is caused by mutations affecting the gene represented in this entry. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:215140]: Rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations. Note=The disease is caused by mutations affecting the gene represented in this entry. Reynolds syndrome (REYNS) [MIM:613471]: A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Cellular location:
Nucleus inner membrane; Multi-pass membrane protein.
Genetic variants
119 - 119
P -> L (in PHA). VAR_017841
154 - 154
S -> N (in dbSNP:rs2230419). VAR_024318
2230419
169 - 169
R -> C (in dbSNP:rs2230420). VAR_052155
2230420
311 - 311
T -> A (in dbSNP:rs2275601). VAR_020209
2275601
372 - 372
R -> C (in REYNS). VAR_063811
569 - 569
P -> R (in PHA). VAR_017842
Database cross-references
UniProt:
Q14739
Ensembl:
ENST00000272163
Ensembl:
ENST00000338179
MIM:
169400
MIM:
215140
MIM:
600024
MIM:
613471
neXtProt:
NX_Q14739
Antibodypedia:
Q14739
(may not find the protein thus also not any antibody)
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