Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-h - Nucleotide

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Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis. [Reprod Sci. 2024]
Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
Villarroel CE, Zenteno JC, Barragán-Arévalo T, Leal-Anaya P, Pérez-Muñoz E, Frías-Soria CL, López-Corella E, Yokoyama E. Reprod Sci. 2024 Jul; 31(7):1861-1867. Epub 2024 Mar 6.
The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition. [Hum Mol Genet. 2022]
The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.
Liu M, Yang Y, Wang Y, Chen S, Shen Y. Hum Mol Genet. 2022 Mar 31; 31(7):1013-1021.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

RefSeq alternative splicing
See 8 reference mRNA sequence splice variants for the SOHLH1 gene.
RefSeq protein product
See the reference protein sequence for spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform a (NP_001095147.2).

Protein
Protein sequence from Nucleotide coding region
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Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SO...
Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA
gi|1714612915|ref|NM_001101677.2|

Nucleotide
Homo sapiens uromodulin like 1 (UMODL1), transcript variant 3, mRNA
Homo sapiens uromodulin like 1 (UMODL1), transcript variant 3, mRNA
gi|1905532621|ref|NM_001199527.3|

Nucleotide
PREDICTED: Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-...
PREDICTED: Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant X3, mRNA
gi|2217377239|ref|XM_006717109.5|

Nucleotide
Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa, mRNA (cDNA clone ...
Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa, mRNA (cDNA clone MGC:35123 IMAGE:5168073), complete cds
gi|24657845|gb|BC039039.1|

Nucleotide
Axial spondylometaphyseal dysplasia
Axial spondylometaphyseal dysplasia

MedGen

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Nucleotide