Entry - *617975 - FAMILY WITH SEQUENCE SIMILARITY 210, MEMBER A; FAM210A - OMIM
 
* 617975

FAMILY WITH SEQUENCE SIMILARITY 210, MEMBER A; FAM210A


Alternative titles; symbols

CHROMOSOME 18 OPEN READING FRAME 19; C18ORF19


HGNC Approved Gene Symbol: FAM210A

Cytogenetic location: 18p11.21     Genomic coordinates (GRCh38): 18:13,663,347-13,726,558 (from NCBI)


TEXT

Description

FAM210A appears to be a determinant of bone and muscle structure and strength (Tanaka et al., 2018).


Cloning and Expression

Tanaka et al. (2018) noted that FAM210A is predicted to produce to 4 different transcripts encoding protein isoforms ranging from an intracellular 67-amino acid protein to mitochondrial and membrane proteins of up to 272 amino acids, the latter of which contains a single-pass transmembrane region. They showed that mouse Fam210a was expressed in various tissues, including skeletal muscle, heart, and brain, but not in bone. Fam210a was expressed in cytoplasm and mitochondria of mouse primary myoblasts and myotubes.


Mapping

Tanaka et al. (2018) reported that the FAM210A gene maps to chromosome 18p11.21.


Animal Model

Tanaka et al. (2018) found that grip strength and lean mass of all limbs were decreased in heterozygous and homozygous Fam210a-knockout mice, as well as in mice with skeletal muscle cell-specific knockout of Fam210a. Homozygous Fam210a-knockout mice exhibited decreased bone mineral density, bone mineral content, and biomechanical strength, as well as increased microarchitectural deterioration of trabecular and cortical bones, decreased bone formation, and increased osteoclast activity. Similar but less pronounced changes were observed in heterozygous Fam210a-knockout mice. Microarray analysis showed lower levels of several muscle differentiation-related and muscle contraction-related factors in primary muscle cells from homozygous Fam210a-knockout mice. In contrast, a bone resorption-related factor, matrix metalloproteinase-12 (MMP12; 601046), showed increased levels in primary muscle cells from homozygous Fam210a-knockout mice. Tanaka et al. (2018) concluded that FAM201A influences structure and strength of muscle and bone.


REFERENCES

  1. Tanaka, K., Xue, Y., Nguyen-Yamamoto, L., Morris, J. A., Kanazawa, I., Sugimoto, T., Wing, S. S., Richards, J. B., Goltzman, D. FAM210A is a novel determinant of bone and muscle structure and strength. Proc. Nat. Acad. Sci. 115: E3759-E3768, 2018. [PubMed: 29618611, related citations] [Full Text]


Creation Date:
Bao Lige : 05/11/2018
Edit History:
mgross : 05/11/2018

* 617975

FAMILY WITH SEQUENCE SIMILARITY 210, MEMBER A; FAM210A


Alternative titles; symbols

CHROMOSOME 18 OPEN READING FRAME 19; C18ORF19


HGNC Approved Gene Symbol: FAM210A

Cytogenetic location: 18p11.21     Genomic coordinates (GRCh38): 18:13,663,347-13,726,558 (from NCBI)


TEXT

Description

FAM210A appears to be a determinant of bone and muscle structure and strength (Tanaka et al., 2018).


Cloning and Expression

Tanaka et al. (2018) noted that FAM210A is predicted to produce to 4 different transcripts encoding protein isoforms ranging from an intracellular 67-amino acid protein to mitochondrial and membrane proteins of up to 272 amino acids, the latter of which contains a single-pass transmembrane region. They showed that mouse Fam210a was expressed in various tissues, including skeletal muscle, heart, and brain, but not in bone. Fam210a was expressed in cytoplasm and mitochondria of mouse primary myoblasts and myotubes.


Mapping

Tanaka et al. (2018) reported that the FAM210A gene maps to chromosome 18p11.21.


Animal Model

Tanaka et al. (2018) found that grip strength and lean mass of all limbs were decreased in heterozygous and homozygous Fam210a-knockout mice, as well as in mice with skeletal muscle cell-specific knockout of Fam210a. Homozygous Fam210a-knockout mice exhibited decreased bone mineral density, bone mineral content, and biomechanical strength, as well as increased microarchitectural deterioration of trabecular and cortical bones, decreased bone formation, and increased osteoclast activity. Similar but less pronounced changes were observed in heterozygous Fam210a-knockout mice. Microarray analysis showed lower levels of several muscle differentiation-related and muscle contraction-related factors in primary muscle cells from homozygous Fam210a-knockout mice. In contrast, a bone resorption-related factor, matrix metalloproteinase-12 (MMP12; 601046), showed increased levels in primary muscle cells from homozygous Fam210a-knockout mice. Tanaka et al. (2018) concluded that FAM201A influences structure and strength of muscle and bone.


REFERENCES

  1. Tanaka, K., Xue, Y., Nguyen-Yamamoto, L., Morris, J. A., Kanazawa, I., Sugimoto, T., Wing, S. S., Richards, J. B., Goltzman, D. FAM210A is a novel determinant of bone and muscle structure and strength. Proc. Nat. Acad. Sci. 115: E3759-E3768, 2018. [PubMed: 29618611] [Full Text: https://doi.org/10.1073/pnas.1719089115]


Creation Date:
Bao Lige : 05/11/2018

Edit History:
mgross : 05/11/2018